Multiple variation of right renal and gonadal vascularization: report of two cases / Variação múltipla da vascularização renal e gonadal direita: relato de dois casos

Abstract We present two cases of multiple anatomical variations of the renal and gonadal vessels. The first case presented duplication of the renal vein and the presence of an accessory renal artery. However, the most interesting fact, in this case, was that the right gonadal vein emptied into the inferior right renal vein instead of ending in the inferior vena cava as would typically be the case. In the second case, we also found an accessory renal artery and the right gonadal vein emptied at the exact junction between the right renal vein and the inferior vena cava. Clinicians and surgeons should be familiar with anatomical variations to provide an accurate diagnosis during preoperative studies and to avoid surprises in abdominal surgical procedures.

Resumo Este estudo apresenta dois casos de variação anatômica múltipla de vasos renais e gonadais. O primeiro caso apresentou uma duplicação da veia renal e a presença de uma artéria renal acessória. Porém, o fato mais interessante nesse caso foi a veia gonadal direita desembocar na veia renal direita inferior em vez de terminar na veia cava inferior, como seria o normal. No segundo caso, além de também encontrarmos uma artéria renal acessória, a veia gonadal direita desembocava no exato ponto de junção entre a veia renal direita e a veia cava inferior. Clínicos e cirurgiões devem estar familiarizados com a presença de possíveis variações dos vasos renais e gonadais, sendo um conhecimento imprescindível para obter um diagnóstico mais preciso e para evitar surpresas em procedimentos cirúrgicos abdominais.

Exploring the unusual: a testosterone-secreting ovarian tumor

ABSTRACT Ovarian steroid cell tumors are rare, representing less than 0.1% of all ovarian neoplasms. Among the myriad causes of hirsutism, ovarian tumors account for 1% of the reported cases. We present the case of a 49-year-old parous postmenopausal woman who sought medical attention for hirsutism for 2 years. This case illustrates the unusual and interesting connection between rare ovarian pathology and the clinical manifestation of hirsutism in a postmenopausal patient. Her ultrasonography and MRI showed a right adnexal mass of solid-cystic consistency with thin septations. Her laboratory workup revealed high levels of total testosterone of 256 ng/ml (8.4-48.1ng/ml) and free testosterone of 7.36 pg/ml (0.2-4.1 pg/ml), while DHEAS - 234 µg/dl (35.4-256 µg/dl) and CA125 - 15.8U/L (0.0-35 U/L) were in the normal range. She underwent exploratory laparotomy with a total abdominal hysterectomy and oophorectomy. Histopathological examination and immunohistochemistry conclusively established the presence of a steroid cell tumor, specifically classified as "Not Otherwise Specified"(NOS), in the right ovary.

Prevalence of hypogonadism in transfusion-dependent ß-thalassemia patients of Bangladesh: investigating the role of serum ferritin level as a diagnostic tool

ABSTRACT Introduction: Hypogonadism is one of the most frequent complications in transfusion-dependent thalassemia patients and early recognition and treatment is the core element in restoring impaired gonadal function. Despite the high burden of disease, relevant studies are scarcely addressing the gonadal function of such patients in Bangladesh. The pattern of gonadal function in transfusion-dependent thalassemia patients must be characterized before planning a generalized management plan. Moreover, since iron overload is a key reason behind hypogonadism in thalassemia patients, investigating the role of serum ferritin level as a diagnostic tool for hypongadism was also an aim of this study. Methods: This cross-sectional study was conducted at the Department of Transfusion Medicine of the Bangabandhu Sheikh Mujib Medical University. According to the inclusion and exclusion criteria, a total of 94 patients were enrolled in this study. A detailed history and thorough clinical examination were carried out in each patient and recorded using a pretested structured questionnaire. In addition, the laboratory assessment of serum ferritin, luteinizing hormone (LH), follicle stimulating hormone (FSH), testosterone and estradiol in serum were also performed. The data were analyzed using the STATA (v.16). Results: The mean age of the patients with transfusion-dependent thalassemia was 18.81 ± 4.65 (SD), with 53.3% of the patients being male. The overall prevalence of hypogonadism was 35.11%, 18.1% being normogonadotropic, 11.7% being hypogonadotropic and 5.3% being hypergonadotropic. The serum ferritin level was significantly higher (p < 0.001) in patients with hypogonadism (Eugonadal: 2,174.79 (± 749.12) ng/ml; Hypogonadal: 3,572.59 (± 1,199.49) ng/ml). The area under the receiver operating characteristic (ROC) curve of serum ferritin was high (0.83) and the p-value was highly significant (< 0.001). Conclusion: Therefore, the serum ferritin level and gonadal hormone analysis of transfusion-dependent thalassemia patients can be considered a screening tool for assessing gonadal function and early detection and prevention of hypogonadism.

Experimental pain thresholds and psychosocial features across menstrual cycle in myofascial orofacial pain compared to healthy individuals: cross-sectional study / Limiares de dor experimental e características psicossociais ao longo do ciclo menstrual na dor miofascial orofacial em comparação com indivíduos saudáveis: estudo transversal

ABSTRACT BACKGROUND AND OBJECTIVES: The hormonal impact on pain perception during the menstrual cycle is a major focus of study, and further elucidation in temporomandibular disorders (TMD) field is necessary. Thus, this cross-sectional study evaluated experimental pain thresholds, psychosocial features, and clinical pain report on TMD women across menstrual cycle versus healthy controls. METHODS: A total of 220 women's clinical files were screened, with 80 selected and divided into control group (healthy individuals, n=40) and TMD group (myofascial pain, n=40). Regarding the menstrual cycle phases, the files were divided into Pre-Luteal and Luteal. The Perceived Stress Scale (PSS), Pain Catastrophizing Scale (PCS), Mechanical Pain Threshold (MPT), Wind-up (WUR), Pressure Pain Threshold (PPT), Conditioned Pain Modulation (CPM) and Visual Analogue Scale (VAS) were analyzed at a 5% significance level, by Two-Way ANOVA test and post hoc Tukey test. RESULTS: PSS and PCS were significantly different between TMD and control group (p<0.001), regardless of menstrual cycle. Healthy individuals in the Luteal phase presented higher MPT values compared to the other phases (p<0.001). PPT showed significant difference across menstrual phases (p=0.022), but no differences in multiple comparisons. VAS values showed no difference between menstrual cycle phases (p=0.376). CONCLUSION: Finally, healthy individuals in the Luteal phase have higher MPT and PPT values on the orofacial region. Pain report in patients with TMD showed no difference throughout the menstrual cycle, showing that small alterations on experimental pain thresholds may not be clinically relevant. The presence of chronic pain seems to be more related to psychosocial features than hormonal fluctuations.

RESUMO JUSTIFICATIVA E OBJETIVOS: O impacto do ciclo menstrual na percepção da dor é um foco importante de estudo, sendo necessária uma maior elucidação na disfunção temporomandibular (DTM). Assim, este estudo transversal avaliou limiares de dor experimental, características psicossociais e relatos de dor em mulheres com DTM ao longo do ciclo menstrual, comparadas com controles saudáveis. MÉTODOS: 220 prontuários de mulheres foram analisados, sendo 80 selecionados para os grupos de controle (saudáveis, n=40) e DTM (dor miofascial, n=40). Nas fases do ciclo menstrual, as pacientes foram divididas nas categorias Pré-Luteal e Luteal. Os instrumentos Escala de Estresse Percebido (PSS), Escala de Pensamentos Catastróficos (PCS), Limiar de Dor Mecânica (MPT), Wind-up Ratio (WUR), Limiar de Dor à Pressão (PPT), Modulação Condicionada da Dor (CPM) e Escala analógica visual (EAV) foram analisados com nível de significância de 5%, pelos testes ANOVA de dois fatores e Tukey post hoc. RESULTADOS: As escalas PSS e PCS foram significativamente diferentes entre os grupos DTM e controle (p<0,001), independentemente do ciclo menstrual. Indivíduos saudáveis na fase luteal apresentaram MPT maior em comparação com outras fases (p,0,001). O PPT mostrou diferença significativa entre as fases menstruais (p=0,022), sem diferença nas comparações múltiplas. Os valores da EAV não apresentaram diferença entre as fases menstruais (p=376). CONCLUSÃO: Indivíduos saudáveis na fase luteal têm MPT e PPTl maior na região orofacial. Os relatos de dor em pacientes com DTM não mostraram diferença ao longo do ciclo menstrual, indicando que pequenas alterações nos limiares experimentais podem ser clinicamente relevantes. A presença de dor crônica parece estar mais relacionada com características psicossociais do que com flutuações hormonais.

Case of Left Inguinal Hernia with an Unknown Syndrome

Ovaries and Fallopian Tubes are rarely found as content of indirect Inguinal Hernia even though Inguinal Hernia is a common entity encountered in surgeons daily practice. We report a case of 13 year old female presented with Left Indirect Irreducible Inguinal Hernia with Fallopian Tube and Ovary as a content along with some rare findings of unilateral renal agenesis along with C7 Bifida vertebrae

Pediatric primary extra-ovarian Sertoli Leydig cell tumor of the retroperitoneum

Ovarian Sertoli Leydig cell tumors (SLCT) accounts for less than 0.5% of all ovarian malignancies. The incidence of primary extra-ovarian SLCT is extremely rare with reported cases occurring in young adult women till now. We report case of primary retroperitoneal extra-ovarian SLCT in a seven-year girl child without any hormonal manifestation. She presented with complaint of left side abdominal swelling associated with intermittent pain for a duration of six months. CT scan revealed a huge retroperitoneal space-occupying lesion abutting the dorsal vertebrae and present posterior to pancreas, spleen and left kidney. The tumor was diagnosed as extraovarian Sertoli Leydig cell tumor with intermediate differentiation on histopathology and immunohistochemistry.

Síndrome de Frasier: ¿Cómo diagnosticar una enfermedad rara en la consulta de Ginecología? Reporte de caso / Frasier Syndrome: How to diagnose a rare disease in a Gynecology consultation? A case report

Resumen INTRODUCCIÓN: El síndrome de Frasier es una enfermedad de herencia autosómica dominante con una prevalencia inferior a 1 caso por cada millón de recién nacidos vivos. Hasta la fecha se han descrito unos 150 casos. Este síndrome se caracteriza por pseudohermafroditismo masculino, disgenesia gonadal 46, XY y enfermedad glomerular, todo ello producido por una mutación del gen WT1. CASO CLÍNICO: Paciente de 16 años que consultó por amenorrea primaria y ausencia de caracteres sexuales secundarios. Antecedentes: glomerulonefritis focal segmentaria corticorresistente desde la infancia. En la exploración física se objetivó un estadio Tanner 1. Las pruebas complementarias pusieron de manifiesto la ausencia de útero y anejos y un hipogonadismo hipergonadotrópico con cariotipo 46, XY. Ante los hallazgos se decidió la laparoscopia exploradora y salpingooforectomía bilateral. El informe anatomopatológico fue de disgerminoma de ovario derecho. La sospecha clínica se confirmó en el estudio genético, que reportó una mutación del gen WT1, diagnóstica de síndrome de Frasier. En la actualidad, la paciente recibe tratamiento inmunosupresor y hormonal sustitutivo, con una evolución favorable. CONCLUSIÓN: El diagnóstico temprano del síndrome de Frasier es fundamental en virtud del riesgo asociado de malignidad. La baja frecuencia de la enfermedad y la asociación común con retraso puberal en pacientes con enfermedades crónicas puede favorecer el retraso del diagnóstico. El reporte de los casos diagnosticados de este síndrome, y el tratamiento multidisciplinario son decisivos para mejorar el conocimiento de esta rara enfermedad.

Abstract INTRODUCTION: Frasier Syndrome is an autosomal dominant inherited disease with a prevalence of less than 1 per million live births. To date, about 150 cases have been described. This syndrome is characterized by male pseudohermaphroditism, 46, XY gonadal dysgenesis, and glomerular disease, all caused by a mutation of the WT1 gene. It is essential to learn more about this disease, not only because of the high risk of ovarian neoplasia, but also because its early diagnosis will improve the prognosis. CLINICAL CASES: We report the case of a 16-year-old woman who consulted for primary amenorrhea and absence of secondary sexual characteristics. As medical history, she highlighted steroid-resistant focal segmental glomerulonephritis since childhood. The examination revealed Tanner stage 1. Complementary tests revealed the absence of the uterus and adnexa and hypergonadotropic hypogonadism with a 46, XY karyotype. Given the findings, it was decided to perform an exploratory laparoscopy and bilateral salpingo-oophorectomy. The anatomopathological result reported dysgerminoma of the right ovary. The clinical suspicion was confirmed by genetic study, which reported a mutation of the WT1 gene, diagnostic of Frasier Syndrome. Currently, the patient undergoes, along with immunosuppressive treatment, hormone replacement therapy, with a favorable evolution. CONCLUSION: Early diagnosis of Frasier Syndrome is essential given the associated risk of malignancy. The low frequency of the disease and the usual association of delayed puberty in patients with chronic diseases may lead to a diagnostic delay. Therefore, reporting the diagnosed cases of this syndrome, as well as its multidisciplinary management, is essential to improve knowledge about this rare disease.

Clinical diagnosis and genetic analysis of 46,XY complete gonadal dysplasia caused by a new mutation of NR5A1 gene / 现代泌尿外科杂志

【Objective】 To investigate the clinical characteristics and molecular genetic mechanism of 46,XY complete gonadal dysplasia (46,XY CGD) caused by a new mutation of NR5A1 gene. 【Methods】 The clinical data of a female patient with 46 XY karyotype were retrospectively analyzed, and the whole exon group and mitochondrial group genes were detected. 【Results】 The clitoris was hypertrophic. The patient had both urethral orifice and vaginal orifice, and there was no common passage between them. Ultrasonography showed an unclear primordial uterus and bilateral ovaries. The gonad biopsy showed poorly developed testicular tissue. Karyotype was 46,XY. The detection of whole exon group and mitochondrial group genes indicated a new heterozygous missense mutation in NR5A1 gene on chromosome 9, and the variation information was c.205C>T:p. Arg69Cys. The mother did not carry the gene mutation. 【Conclusion】 The clinical manifestations of 46,XY CGD are diverse. NR5A1 gene mutation is one of the important causes, which provides a basis for the clinical diagnosis and pathogenesis of the disease.

Cloning and expression analysis of wpHSP90 gene from Whitmania pigra at different temperatures / 中国中药杂志

HSP90 is a widely distributed molecular chaperone that participates in a variety of cellular processes and plays an important role in the meiosis of germ cells. However, its role in the gonadal development of hermaphroditic Whitmania pigra is not yet clear. To explore the effect of HSP90 on the germ cell development of Wh. Pigra, this study cloned the wpHSP90 gene, performed bioinformatics analysis, and measured its expression levels. The results showed that the cloned wpHSP90 was 2 592 bp in length, with an open reading frame(ORF) of 2 373 bp, encoding 790 amino acids. Prediction analysis revealed 85 phosphorylation modification sites on serine, threonine, and tyrosine residues of the wpHSP90 protein. Structural domain prediction and multiple sequence alignment results showed that wpHSP90 contained two conserved domains of HSP90 and exhibited the highest homology with Helobdella robusta, with a sequence similarity of 80.72%. RT-qPCR results showed that the relative expression level of wpHSP90 in the gonads of 5-month-old Wh. pigra was positively correlated with temperature within the range of 12 ℃ to 28 ℃. The expression level in the female gonads was significantly higher than in the male gonads and correlated with the trend of germ cell development in the ovaries and testes. In conclusion, wpHSP90 may be involved in regulating the development of germ cells, particularly oocytes, in Wh. pigra. This study provides a reference for further research on the gonadal development mechanism in Wh. pigra.

Genetic analysis of a gonadal-mosaicism BMD family with prenatal diagnosis and PGT-M / 中华检验医学杂志

Objective:To identify the pathogenic characteristics of a suspected gonadal mosaicism Becker muscular dystrophy (BMD) family, and provide provide basis for pregnancy selection of similar families.Methods:A BMD family admitted to Hunan Jiahui Genetics Hospital from June 2012 to September 2019 was systematically reviewed. The medical history and family history of the proband were checked, and multiplex ligation-dependent probe amplification was used to detect the deletion/duplication of 79 exons of the Duchenne muscular dystrophy (DMD) gene in the proband, fetuses, and parents. Moreover, potential variants were verified by combining PCR amplification, short tandom repeat polymorphic linkage analysis, and real-time fluorescence quantitative PCR. High-quality embryos are screened for transplantation after preimplantation genetic testing for monogenic (PGT-M). And amniotic fluid was collected in the second trimester for prenatal diagnostic verification.Results:According to the phenotype analysis of the proband, the initial clinical diagnosis was BMD, and the exon 45-50 deletion in DMD gene was detected. The mutation was not detected in the mother′s peripheral blood, but when she was pregnant again, the prenatal diagnosis showed that the fetus had the same deletion mutation as the proband. Neither of two vitro embryos tested by PGT-M has the deletion mutation, then single embryo transfer was performed nor was pregnancy successful. After confirmation of prenatal diagnosis during pregnancy, a normal baby girl was born by full-term cesarean section.Conclusions:This BMD family was a family with two consecutive BMD homodeletion mutations, and the mutation of the DMD gene was not detected in the peripheral blood of the proband′s mother and two embryonic cells, suggesting that the mother may be a gonad chimeric carrier of this deletion mutation. The combined application of prenatal diagnosis and PGT-M provides a reference approach to effectively avoid the birth of similar children.

Tumor de ovario de los cordones sexuales con túbulos anulares: reporte de caso y revisión de la literatura / Ovarian sex cord tumor with annular tubules: case report and review of the literature

RESUMEN Objetivos: Reportar un caso de Tumor de Ovario de los Cordones Sexuales con Túbulos Anulares (TCSTA), hacer una revisión de la literatura acerca del diagnóstico, tratamiento y pronóstico de esta condición. Materiales y métodos: Se informa el caso de una mujer que consultó al Instituto Nacional de Cancerología, Bogotá (Colombia), con diagnóstico final de TCSTA avanzado, quien recibió tratamiento quirúrgico y quimioterapia con evolución satisfactoria a los 6 meses. Se realizó una búsqueda de la literatura en las bases de datos Medline vía PubMed, LILACS y Scielo, que incluía reportes y series de caso de mujeres con diagnóstico de TCSTA, publicados desde 1990, sin incluir rango de edad. Se extrajo información sobre el diagnóstico, tratamiento y pronóstico reportado. Se realizó resumen narrativo de los hallazgos. Resultados: Se incluyeron 14 publicaciones que incluían 26 pacientes. La edad media al diagnóstico fue de 22,5 años. Los síntomas principales fueron alteraciones de la menstruación y dolor pélvico. La tomografía computarizada fue la tecnología de imágenes más frecuentemente utilizada. El tratamiento fue quirúrgico, siempre usado, acompañado de quimioterapia (29 %); 2 casos recibieron radioterapia. Hubo recaída en el 20 % de los casos. La mortalidad fue del 12,5 %, toda en el primer año. Conclusiones: La información sobre la utilidad diagnóstica de las imágenes, marcadores tumorales y estudios de histoquímica es escasa, como también los datos sobre el pronóstico de la entidad. El tratamiento quirúrgico es el de elección, teniendo en cuenta el deseo de fertilidad de la paciente y el estadio tumoral. Se requieren más estudios que documenten de manera más detallada el manejo de esta condición.

ABSTRACT Objectives: To report a case of ovarian sex cord tumor with annular tubules (SCTAT) and conduct a literature review on diagnosis, treatment and prognosis of this condition. Material and methods: Case report of a woman with a final diagnosis of advanced SCTAT seen at the National Cancer Institute in Bogota (Colombia) who received surgical treatment and chemotherapy with a satisfactory course after 6 months. A literature search was conducted in the Medline via PubMed, LILACS and Scielo databases, including case reports and series of women diagnosed with SCTAT published since 1990, not using age ranges. Information about diagnosis, treatment and reported prognosis was retrieved. A narrative summary of the findings was prepared. Results: Fourteen publications with 26 patients were included. Mean age at diagnosis was 22.5 years. The main symptoms were menstruation abnormalities and pelvic pain. Computed tomography (CT) was the imaging technology most frequently used. Surgical treatment was used in all cases, together with chemotherapy in 29 %; 2 patients received radiotherapy. Recurrence occurred in 20 % of cases. Mortality was 12.5 %, with all deaths occurring within the first year. Conclusions: There is a paucity of information about the diagnostic utility of imaging, tumor markers and histochemical studies, as well as prognosis of this disease condition. Surgery is the treatment of choice, taking into consideration the patient's wishes regarding fertility, as well as the stage of the tumor. Further studies are needed to provide more detailed information about this condition.

CLINICAL AND CYTOGENETICS ANALYSIS OF WOMEN THAT WERE SUSPECTED FOR TURNER SYNDROME IDENTIFIED AS 19.8% CHROMOSOMALABNORMALITY IN NORTH INDIAN POPULATION

Purpose: The objective of present study was to know the contribution of different types chromosomal anomalies in manifestation of Turner syndrome. Turner syndrome is a chromosomal disorder mainly due to growth retardation and primary amenorrhoea. Cytogenetic analysis of cases referred for Turner syndrome is necessary for an early diagnosis which helps in genetic counselling to manage it in a better way. Total 237 cases suspected for Methods: Turner syndrome, were included in this study for duration of 7 years (2007-2014). We implemented the standard protocol for peripheral whole blood lymphocyte culture, chromosome preparation followed by G-banding. Chromosomes were analysed according to the guidelines of International System for Human Cytogenetic Nomenclature (2005). After analysing 237 Results: registered cases, chromosomal anomalies were seen only in 47 cases (19.8%). Careful clinical examination of patients with abnormal karyotype (n=47) revealed four major phenotypes i.e. growth retardation (n=19, 40.4%), primary amenorrhoea (n=19, 40.4%), primary amenorrhoea with growth retardation (n=6, 12.8%), and oligoamenorrhoea (n=3, 6.4%). Seven different types of chromosomal abnormalities were observed viz. Monosomy X (n=22, 46.8%), triple X syndrome (n=2, 4.2%), turner mosaic (n=3, 6.4%), ring chromosome (n=5, 10.6%), structural abnormalities with X chromosome (n=6, 12.8%), mosaic structural X abnormality (n=1, 2.1%), XY gonadal dysgenesis (n=8, 17%). This study revealed the frequency of Conclusion: most common clinical phenotype and different chromosomal abnormalities in patients suspected for turner syndrome. We observed growth retardation and primary amenorrhoea as most common clinical feature and monosomy of X chromosome as most frequent chromosomal abnormality in this cohort of study.

Síndrome de insensibilidad completa a andrógenos / Complete androgen insensitivity syndrome

El síndrome de insensibilidad a los andrógenos (SIA), conocido también como un síndrome de feminización testicular, incluye un grupo variado de mutaciones que se relacionan con la disfunción de los receptores de andrógenos y la resistencia de los tejidos diana a la acción de las hormonas masculinas. Es causado por alteraciones genéticas localizadas en la secuencia de codificación de los receptores de andrógenos ligada al cromosoma Xq11 - 12, el gen que codifica al receptor de los andrógenos, de un individuo genéticamente masculino (46 XY). Las formas clínicas moderada, parcial o completa, dependen del grado de insensibilidad androgénica. Los avances en las causas genéticas han permitido que estas condiciones congénitas de desarrollo del sexo cromosómico, gonadal o anatómico atípico sean denominados trastornos de diferenciación sexual

Androgen insensitivity syndrome (AIS), also known as testicular feminization syndrome, includes a diverse group of mutations that are related to androgen receptor dysfunction and resistance of target tissues to the action of hormones masculine. It is caused by localized genetic alterations in the androgen receptor coding sequence linked to chromosome Xq11-12, the gene encoding the androgen receptor, of a genetically male (46 XY) individual. Moderate, partial, or complete clinical forms depend on the degree of androgen insensitivity. Advances in genetic causes have allowed these congenital conditions of atypical chromosomal, gonadal, or anatomical sex development to be called disorders of sexual differentiation

Myoid gonadal stromal tumor, a case report with review of the literature

The diagnosis of myoid gonadal stromal tumor (MSGT) can represent a difficult challenge, both for the extreme rarity of this neoplasm and for the clinical?radiological characteristics similar to other neoplasms of the testicle. The case management we present suggests how a complete differential diagnosis can be obtained by integrating ultrasonographic and pathological data.

Síndrome de Turner / Turner's Syndrome / Sindrome de Turner

Introducción: el síndrome de Turner es una enfermedad genética caracterizada por la pérdida total o parcial de un cromosoma X, siendo sus características fundamentales la talla baja, la disgenesia gonadal y hallazgos fenotípicos característicos. Tiene una amplia variabilidad en su forma de presentación. Grandes estudios epidemiológicos muestran que la morbilidad aumenta en mujeres con este síndrome, debido a una amplia gama de enfermedades asociadas, sobre todo cardiovasculares, que eleva la mortalidad de manera significativa. Objetivo: realizar una revisión de la literatura, en base a la presentación de un caso clínico, para recabar información sobre las ultimas pautas de manejo y presentar los nuevos objetivos de tratamiento. Conclusiones: el diagnóstico temprano es fundamental, y tiene características propias y criterios de sospecha según la etapa en la que se efectúa, el reto actual en el manejo de estas pacientes consiste en la formación de un equipo médico multidisciplinario, conformado por una amplia gama de especialistas para el adecuado seguimiento, con el fin de disminuir las complicaciones y ayudar a que la paciente alcance sus objetivos para una vida plena. Se presenta el caso de una paciente con síndrome de Turner vista por el equipo médico en el Hospital Pediátrico del Centro Hospitalario Pereira Rossell, Montevideo-Uruguay.

Introduction: Turner's syndrome is a genetic disease characterized by total or partial loss of an X chromosome, its main features being low height, gonadal dysgenesis and characteristic phenotypic findings. It has a wide variability in its form of presentation. Large epidemiological studies show that morbidity increases in women with this syndrome, due to a wide range of associated diseases, especially cardiovascular disease, which significantly raises mortality. Objectives: to carry out a review of the literature, based on a clinical case in order to gather information regarding the latest treatment guidelines and present the new treatment goals. Conclusions: early diagnosis is essential, and has its own characteristics and suspicion criteria according to the stage in which it is carried out. The present challenge regarding the management of these patients consists of the training of a multidisciplinary medical team made up of a wide range of specialists able to carry out proper follow-up, in order to reduce complications and help the patient live a full life. We present a case of a patient with Turner's syndrome assisted at the Pereira Rossell Hospital Center in Montevideo-Uruguay.

Introdução: a síndrome de Turner é uma doença genética caracterizada pela perda total ou parcial de um cromossomo X, sendo suas características fundamentais de baixa estatura, disgenesia gonadal e achados fenotípicos característicos. Tem uma ampla variabilidade em sua forma de apresentação. Consideráveis (grandes, amplos, extensos) estudos epidemiológicos mostram que a morbidade aumenta em mulheres com essa síndrome, devido a uma ampla gama de doenças associadas, especialmente cardiovasculares, o que aumenta significativamente a mortalidade. Objetivos: realizar uma revisão da literatura, a partir da apresentação de um caso clínico, reunir informações sobre as últimas diretrizes de tratamento e apresentar os novos objetivos do tratamento. Conclusões: o diagnóstico precoce é fundamental, e possui características próprias e critérios de suspeita de acordo com a etapa em que é realizado, o desafio atual na gestão desses pacientes consiste na formação de uma equipe médica multidisciplinar, formada por uma ampla gama de especialistas para o acompanhamento adequado, a fim de reduzir complicações e ajudar a paciente a alcançar uma vida plena. Apresentamos o caso de uma paciente com síndrome de Turner atendido pela equipe médica do Hospital Pediátrico do Centro Hospitalar Pereira Rossell, Montevidéu-Uruguai.

A study of pain perception by cold pressure test in young females during the different phases of menstrual cycle

Background: Menstruation is a cyclic physiological phenomenon showing fluctuations of various Gonadal hormones. Gonadal hormones (estrogen and progesterone) influences pain sensitivity, the former strongly influences nociceptive actions; whereas the latter prevents neuropathic pain some previous study has shown changes in pain sensitivity during menstruation. However, there is only little evidence present on effect of Gonadal hormones on experimental pain Sensitivity. Aims and Objectives: The aim of the present study is to differentiate in Sensation of pain stimulus in terms of - pain threshold, pain tolerance, pain intensity, pain unpleasantness in females with normal menstruation during different phases through using cold presser test. Materials and Methods: A total of 55 normal healthy females were enrolled in the study as per the eligibility criteria. Cold presser test was used as a pain stimulus source. The participants were instructed to hold their least dominant hand in the water bath as long as possible and were requested to inform the first sensation of pain which denoted the participants’ pain threshold. Time from pain threshold to the point where participants could no longer cope with pain and indicate stop, was recorded as pain tolerance. At this point, participants were directed to note pain intensity and unpleasantness on the visual analogue scale. Results: The results showed that high significant pain intensity, pain unpleasantness, and pain tolerance level were highly significant during follicular phase than luteal phase. Conclusion: In our study, we concluded pain perception difference across during different phase of menstruation in the form of high significant pain intensity, pain unpleasantness, and pain tolerance during follicular phase due to the hormonal fluctuation and the differences in autonomic nervous system reactivity these would be the underlying mechanism for these findings.

Nueva variante del gen STAG3 causante de insuficiencia ovárica prematura / New STAG3 gene variant as a cause of premature ovarian insufficiency

RESUMEN Objetivos: describir un caso de falla ovárica secundaria a una variante patogénica homocigota en el gen STAG3 no reportada previamente. Materiales y métodos: paciente de 16 años con amenorrea primaria y ausencia de características sexuales secundarias, en quien se documentó hipotiroidismo autoinmune, pobre desarrollo genital y cintilla gonadal, por lo cual se realizó secuenciación de exorna clínico. Se identificó una variante homocigota patogénica previamente no reportada en el gen STAG3, el cual ha sido relacionado con insuficiencia ovárica prematura (IOP). Conclusiones: en este caso, la realización de exorna clínico fue determinante para identificar una alteración del gen STAG, probablemente asociada a la IOP y el pronóstico a largo plazo de la paciente. Se establece una nueva variante patogénica c.2773delT; p.Ser925Profs*6 del gen STAG3 asociada a la IOP.

ABSTRACT Objectives: To describe a case of ovarian failure secondary to a homozygous pathogenic variant in the STAG3 gene not previously reported. Material and methods: A 16-year-old patient with primary amenorrhea and absence of secondary sexual characteristics, with documented autoimmune hypothyroidism, poor genital and gonadal streak development which prompted the performance of clinical exorne sequencing. A homozygous pathogenic variant not previously reported in the STAG3 gene, which has been associated with premature ovarian insufficiency (POI), was identified. Conclusions: In this case, clinical exorne sequencing was key for identifying a STAG gene abnormality, probably associated with POI and long term prognosis for the patient. A new pathogenic variant c.2773delT; p.Ser925Profs*6 of the STAG3 gene associated with POI was established.

Atendendo mulheres com cariótipo 46, XY / Attending women with 46, XY karyotype

As diferenças ou distúrbios do desenvolvimento sexual (DDS) compreendem um grupo heterogêneo de condições congênitas que resultam na discordância entre os cromossomos sexuais, as gônadas e/ou o sexo anatômico de um indivíduo. A classificação desses distúrbios é baseada no cariótipo conforme o Consenso de Chicago de 2006 e substitui os termos pseudo-hermafroditismo, hermafroditismo e intersexo. O objetivo desta revisão é fornecer ao ginecologista conhecimentos básicos sobre a etiologia, fisiopatologia e orientações das principais anormalidades de DDS para uma avaliação diagnóstica e terapêutica no atendimento de mulheres na infância, adolescência e em idade adulta com cariótipo 46,XY. O diagnóstico deve ser realizado pela interação entre o exame clínico as dosagens hormonais, os exames de imagem e a análise genética, desde o cariótipo até o estudo de alterações dos genes por técnicas de biologia molecular. O tratamento é realizado de acordo com a etiologia e inclui intervenções cirúrgicas como a gonadectomia e plásticas sobre a genitália externa, terapia de reposição hormonal e apoio psicológico. São necessárias a individualização dos casos e uma equipe interdisciplinar, para um atendimento adequado às mulheres com cariótipo 46,XY.(AU)

Differences or disorders of sexual development (DSDs) comprise a heterogeneous group of congenital conditions that result in the disagreement between an individual's sex chromosomes, gonads and/or anatomic sex. The classification of these disorders is based on the karyotype according to the 2006 Chicago Consensus and replaces the terms pseudohermaphroditism, hermaphroditism and intersex. The aim of this review is to provide the gynecologist with basic knowledge about the etiology, pathophysiology and guidelines of the main abnormalities of DDS for a diagnostic and therapeutic evaluation in the care of women in childhood, adolescence and adulthood with a karyotype 46,XY. The diagnosis must be made by the interaction between clinical examination hormonal measurements, imaging and genetic analysis from the karyotype to the study of gene alterations by molecular biology techniques. Treatment is carried out according to the etiology and includes surgical interventions such as gonadectomy and plastic surgery on the external genitalia, hormone replacement therapy and psychological support. Individualization of cases and an interdisciplinary team are required to provide adequate care for women 46,XY karyotype.(AU)

Efeitos adversos relacionados ao uso de hormônio em pessoas transexuais: revisão integrativa / Adverse effects related to hormone use in transgender people: integrative review

As pessoas Transexuais são aquelas que apresentam identidade de gênero diferente do sexo biológico e gênero atribuído ao nascer. Há um sentimento de não relação entre o sexo e gênero e, assim, sentem a necessidade de adquirir certas características corporais do gênero com o qual se identificam. Por vezes, essa transição ocorre por meio da utilização de hormônios e/ou procedimentos estéticos. Durante o processo da hormonização, certos efeitos adversos ocorrem e podem apresentar vários riscos e problemas à saúde. Para tanto, indaga-se: Quais são as evidências científicas sobre efeitos adversos em pessoas transexuais que utilizam hormônio de sexo cruzado? Assim, o presente trabalho objetivou identificar e analisar os efeitos adversos descritos na literatura relacionados ao uso de hormônios em pessoas transexuais. Trata-se de uma revisão integrativa cuja busca dos artigos foi realizado em dezembro de 2021 até o mês de janeiro de 2022, nas seguintes bases de dados: Embase, PubMed, MEDLINE, Scopus e Lilacs. Foram incluídos 18 artigos para integrar o presente estudo. A análise de dados dos artigos incluídos partiu da ordenação e categorização do problema de pesquisa e com auxílio de estatística descritiva, com emprego da frequência e porcentagem. A partir da análise crítica dos artigos permitiu a identificação dos efeitos adversos. Foram identificados 75 efeitos adversos, os mais identificados foram a diminuição significativa de HDL e o aumento considerável de IMC ambos apresentaram o mesmo porcentual 6,7% (n = 5), seguidos do surgimento de acne com 5,3%(n=4), hiperuricemia e hiperprolactinemia ambos apresentam 4% (n = 3). Portanto, os resultados alcançados neste estudo, fornecem maior compreensão dos eventuais problemas que os efeitos adversos podem causar no organismo. Diante disso, constata-se a necessidade da realização de estudo direcionado especificamente aos efeitos adversos dos hormônios em pessoas transexuais que optam por usar hormônios para a realização de transição de gênero. Outro ponto importante a ser estudado é qual seria o hormônio ideal ou a combinação ideal de hormônio que produz resultados mais satisfatórios ou menos efeitos adversos. Também, há necessidade da realização do monitoramento desses indivíduos durante todo o processo.

Transgender people are those who have a gender identity different from the biological sex and gender assigned at birth. There is a feeling of unrelatedness between sex and gender, and thus they feel the need to acquire certain body characteristics of the gender with which they identify. Sometimes this transition occurs through the use of hormones and/or aesthetic procedures. During the process of hormonization, certain adverse effects occur and can present several risks and problems to health. Therefore, the following questions are posed: What is the scientific evidence on adverse effects in transsexual people who use cross-sex hormone? Thus, the present work aimed to identify and analyze the adverse effects described in the literature related to the use of hormones in transsexual people. This is an integrative review whose search for articles was carried out from December 2021 to January 2022, in the following databases: Embase, PubMed, MEDLINE, Scopus, and Lilacs. Eighteen articles were included in this study. The data analysis of the included articles started with the ordering and categorization of the research problem and with the help of descriptive statistics, using frequency and percentage. The critical analysis of the articles allowed the identification of adverse effects. Seventy-five adverse effects were identified, the most identified were a significant decrease in HDL and a considerable increase in BMI, both with the same percentage of 6.7% (n = 5), followed by the appearance of acne with 5.3% (n = 4), hyperuricemia and hyperprolactinemia, both with 4% (n = 3). Therefore, the results achieved in this study, provide greater understanding of the possible problems that adverse effects can cause in the body. In view of this, there is a need for a study directed specifically at the adverse effects of hormones on transsexuals who choose to use hormones for their gender transition. Another important point to be studied is what would be the ideal hormone or the ideal combination of hormones that produces more satisfactory results or fewer adverse effects. Also, there is a need for monitoring these individuals during the entire process.

Disgenesia gonadal completa 46,XY o síndrome de Swyer: reporte de un caso / Complete 46,XY gonadal dysgenesis or Swyer syndrome: A case report

Resumen INTRODUCCIÓN: La disgenesia gonadal completa 46,XY (síndrome de Swyer) es una alteración del desarrollo sexual caracterizada por fenotipo femenino, amenorrea primaria, útero normal o rudimentario, estrías gonadales y cariotipo con expresión 46,XY. CASO CLÍNICO: Paciente de 14 años, con amenorrea primaria e hipogonadismo en estudio. En la exploración física se encontraron: glándulas mamarías con Tanner 1, vello axilar y púbico Tanner 1, genitales externos de apariencia femenina, sin desarrollo secundario; labios mayores lisos, sin rugosidades ni aumento de la pigmentación y labios menores pequeños, no visibles. La histeroscopia reportó: himen íntegro y vagina normal; cuello uterino pequeño, con canal endocervical normal, sin comunicación a la cavidad del útero. El cariotipo de sangre periférica fue 46,XY. CONCLUSIÓN: La disgenesia gonadal completa 46,XY es una alteración que debe considerarse en las pacientes con amenorrea primaria y ausencia de caracteres sexuales secundarios. La valoración mediante un equipo multidisciplinario permitirá establecer el diagnóstico y tratamiento adecuados para este tipo de padecimiento.

Abstract INTRODUCTION: 46, XY Complete Gonadal Dysgenesis (46, XY DGC), or Swyer Syndrome, is an alteration of sexual development, characterized by a female phenotype; primary amenorrhea; normal or rudimentary uterus; Gonadal striae and 46, XY karyotype. CASE REPORT: A 14-year-old patient comes for a referral to a second-level care center; due to primary amenorrhea and hypogonadism under study. On physical examination: Tanner 1 breasts; Tanner 1 axillary and pubic hair; female apparent external genitalia without secondary development, smooth labia majora, without roughness, without increased pigmentation; with small non-visible labia minora; hysteroscopy that reported: presence of complete hymen, normal vagina; Small cervix, with normal endocervical canal, without passing into the cavity of the uterus. Peripheral blood karyotype: 46, XY. CONCLUSION: 46, XY complete gonadal dysgenesis is a clinical entity that should be considered in all patients with primary amenorrhea and absence of secondary sexual characteristics. The multidisciplinary assessment will allow to establish the appropriate diagnosis and treatment for this type of disease.