Mutations in the bone morphogenetic protein 15 gene causing defective protein secretion in Cholistani infertile sheep / Mutações no gene da proteína morfogenética óssea 15 causadoras de defeitos na secreção proteica em ovelhas inférteis Cholistani

Naturally occurring mutations in morphogenetic protein 15 (BMP15) are associated with decreased ovulation rate (OR), litter size (LS), and sterility. It is of a great interest to elucidate BMP15 gene in Cholistani sheep breed to uplift socio-economic status and the knowledge of Cholistani sheep breeding in Southern Punjab, Pakistan. In our study, a total of 50 infertile Cholistani sheep aged between 2-6 years and having no blood relation were screened for BMP15 mutations. For this purpose, a high-quality DNA was extracted from the blood of sheep followed by primer designing, Polymerase Chain Reaction (PCR) amplification, DNA sequencing, and in silico analyses. Out of total 50 samples, 9 samples including case 1 (T3), case 2 (T8), case 3 (T17), case 4 (T22), case 5 (T25), case 6 (T33), case 7 (T40), case 8 (T44), and case 9 (T47) were found positive for a variety of already reported and novel BMP15 mutations. Further in silico analyses of the observed mutations have shown the functional impact of these mutations on different characteristics (molecular weight, theoretical PI, estimated half-life, instability index, sub-cellular localization, and 3D confirmation) of the encoded proteins, possibly altering the normal functionality. In a nutshell, findings of this study have confirmed the possible essential role of the BMP15 mutations in the infertility of the Cholistani sheep.

Mutações de ocorrência natural na proteína morfogenética 15 (BMP15) estão associadas à diminuição da taxa de ovulação (TO), tamanho da ninhada (TN) e esterilidade. Estudar a BMP15 na raça Cholistani para elevar o status socioeconômico e o conhecimento da criação de ovinos Cholistani no sul de Punjab, Paquistão. Em nosso estudo, 50 ovelhas Cholistani inférteis sem parentesco sanguíneo foram rastreadas para mutações BMP15. Para tanto, um DNA de alta qualidade foi extraído do sangue dessas ovelhas, seguido de concepção do primer, amplificação da reação em cadeia da polimerase (PCR), sequenciamento de DNA e análises in silico. Do total de 50 amostras, 9, incluindo caso 1 (T3), caso 2 (T8), caso 3 (T17), caso 4 (T22), caso 5 (T25), caso 6 (T33), caso 7 (T40), caso 8 (T44) e caso 9 (T47), foram consideradas positivas para uma variedade de mutações BMP15 novas e já relatadas. Mais análises in silico das mutações observadas mostraram o impacto funcional dessas mutações em diferentes características (peso molecular, PI teórico, meia-vida estimada, índice de instabilidade, localização subcelular e confirmação 3D) das proteínas codificadas, possivelmente alterando a funcionalidade normal. Nossos achados confirmaram o possível papel essencial das mutações BMP15 na infertilidade de ovelhas Cholistani.

Alteraciones citogenéticas en pacientes con diagnóstico de infertilidad en Lima, Perú / Cytogenetic abnormalities in patients with infertility diagnosis in Lima, Peru

INTRODUCCIÓN: La infertilidad es una enfermedad multicausal y el componente genético representa uno de sus principales eventos. Si bien la distribución de la infertilidad puede variar entre poblaciones, las parejas de los países con bajos y medianos ingresos pueden verse más afectadas por la infertilidad, con una proporción de alteraciones citogenéticas aún no esclarecidas. OBJETIVO: Evaluar la frecuencia de alteraciones citogenéticas y su correlación con el número de abortos en pacientes peruanas con diagnóstico de infertilidad. MÉTODO: Se realizó un estudio de corte transversal en 400 pacientes de 18 a 60 años, de ambos sexos, con diagnóstico de infertilidad. Se registraron las características clínicas disponibles durante el examen genético y el análisis citogenético convencional fue con bandeo GTG en muestras de sangre periférica. El análisis de correlación se realizó con la prueba de Spearman. RESULTADOS: Del total, 389 pacientes cumplieron los criterios de inclusión, y de estos, 169 (43,44%) tuvieron reportes de abortos (promedio: 2,25, rango: 1-7). Hallamos una correlación significativa ente el número de abortos y las alteraciones citogenéticas (p < 0,000). Reportamos 25/289 (6,43%) alteraciones cromosómicas, de las que 11/25 (44%) fueron heterocromatinas constitutivas y 6/25 (24%) fueron translocaciones reciprocas. Las alteraciones citogenéticas más frecuentes fueron 16qh+ y 9qh+ (ambas con un 16%), y afectaron a 17 (68%) varones. CONCLUSIONES: Existe una moderada frecuencia de alteraciones citogenéticas en pacientes peruanos con diagnóstico de infertilidad, y las alteraciones más frecuentes fueron heterocromatina constitutivas. Además, evidenciamos una correlación significativa ente el número de abortos y las alteraciones citogenéticas.

INTRODUCTION: Infertility is a multicausal disease and the genetic component represents one of its main events. Although the distribution of infertility may vary between populations, couples in low-and-middle-income countries may be more affected by infertility with a proportion of cytogenetic alterations still unclear. OBJECTIVE: To evaluate the frequency of cytogenetic alterations and their correlation with the number of abortions in Peruvian patients with a diagnosis of infertility. METHOD: A cross-sectional study was carried out in 400 patients between 18 and 60 years-old, of both genders with a diagnosis of infertility. The clinical characteristics available during the genetic examination were recorded and the conventional cytogenetic analysis was with GTG banding in peripheral blood samples. The correlation analysis was performed with the Spearman test. RESULTS: Of the total 389 patients who met the inclusion criteria, of these 169 (43.44%) patients had reports of abortions (mean: 2.25, range: 1-7). We found a significant correlation between the number of abortions and cytogenetic alterations (p < 0.000). We report 25/289 (6.43%) chromosomal alterations, where 11/25 (44%) were constitutive heterochromatin, and 6/25 (24%) were reciprocal translocations. The most frequent cytogenetic alterations were 16qh + and 9qh + (both 16%), and affected 17 (68%) men. CONCLUSIONS: There is a moderate frequency of cytogenetic alterations in Peruvian patients diagnosed with infertility, where the most frequent alterations were constitutive heterochromatin. Furthermore, we evidenced a significant correlation between the number of abortions and cytogenetic alterations.

Evaluación de la terapia de reproducción médicamente asistida en 9 años: estudio de cohorte retrospectivo / Medically assisted reproductive therapy assessment in 9 years: retrospective cohort study

OBJETIVO: Describir las tasas de recién nacidos vivos (RNV) y embarazo de la terapia de reproducción médicamente asistida de baja complejidad del Centro de Reproducción Humana de la Universidad de Valparaíso, Chile. MÉTODO: Estudio retrospectivo de todos los ciclos de estimulación ovárica controlada con inseminación intrauterina (IIU) completados, entre los años 2011 y 2019. Se evaluaron las características clínicas basales y los resultados en IIU homólogas y heterólogas según el ciclo inseminado, la causa de infertilidad, el rango etario y el índice de masa corporal (IMC). El desenlace principal fue la tasa de RNV por ciclo inseminado. RESULTADOS: Se estudiaron 1415 ciclos en 700 parejas. La tasa acumulativa de RNV fue del 19,6%, un 18,3% en IIU homóloga y un 39,0% en IIU heteróloga. La tasa de RNV fue del 10,0% al primer ciclo, del 5,8% al segundo ciclo y del 3,7% al tercer o más ciclos. Al separar por IIU heteróloga, esta aumenta al 24,4% al primer ciclo y al 14,6% al segundo ciclo. La tasa de RNV es significativamente mejor en pacientes menores de 35 años (23,7%) y con IMC < 29 (20,8%). CONCLUSIONES: El tratamiento de baja complejidad en pacientes infértiles es una opción terapéutica vigente con una aceptable tasa de RNV por ciclo inseminado. Los resultados están influenciados por la edad y por el IMC.

OBJECTIVE: To describe the rates of live newborns (LNB) and pregnancy of the low complexity therapy of the Centre for Human Reproduction of Universidad de Valparaíso, Chile. METHOD: Retrospective study of all cycles of controlled ovarian stimulation with intrauterine insemination (IUI) completed between 2011-2019. The baseline clinical characteristics and results in homologous and heterologous IUI were evaluated according to inseminated cycle, cause of infertility, age range and body mass index (BMI). The main outcome was rate of LNB per inseminated cycle. RESULTS: 1415 cycles were studied in 700 couples. The cumulative rate of LNB was 19.6%, 18.3% in homologous IUI and 39.0% in heterologous IUI. The LNB rate was 10.0% at the first cycle, 5.8% at the second cycle, 3.7% at the third or more cycles. When separating by heterologous IUI, it increases to 24.4% in the first cycle and 14.6% in the second cycle. The LNB rate is significantly better in patients under 35 years of age (23.7%) and with a BMI less than 29 (20.8%). CONCLUSIONS: Treatment of low complexity in selected infertile patients is a current therapeutic option with an acceptable rate of LNB per inseminated cycle. The results are influenced by age and BMI.

Comparison of spermiograms of infertile men before and during the COVID-19 pandemic

SUMMARY OBJECTIVE: Since the start of the COVID-19 pandemic, there has been interest in the impact of both SARS-CoV-2 infection and pandemic-induced social restrictions on male reproductive health. This study aimed to evaluate the spermiogram values of men who presented for infertility during the pandemic compared with the previous 2 years. METHODS: Patients who presented to a urology outpatient clinic for the first time due to infertility were included. The patients' age, semen volume, and spermiogram results were recorded. Based on the presentation date, the patients were divided into prepandemic group 1 (March 2018-February 2019), prepandemic group 2 (March 2019-February 2020), and pandemic group (March 2020-February 2021) for comparison. RESULTS: A total of 594 patients were included. There was no significant difference between the three groups in terms of the number of patients who presented for infertility (207, 190, and 197 patients, respectively; p=0.691). The mean age was 36.6±7.2 in the prepandemic group 1, 35.5±7.1 in the prepandemic group 2, and 33.1±6.3 in the pandemic group. Patients who presented during the pandemic were significantly younger (p<0.001). There were no differences between the groups in terms of semen volume (p=0.910) or rates of normospermia and pathological spermiogram findings (p=0.222). CONCLUSIONS: In the first year of the COVID-19 pandemic, there was no significant difference in the number of patients who presented for infertility or in their spermiogram results compared with 2018 and 2019. However, it is noteworthy that the patients were significantly younger during the pandemic than in the previous 2 years.

The social and cultural consequences of infertility in rural and periurban

Relatively little is known about infertility experiences among women in rural Malawi and the impact of infertility on women's marital and family relations. This article examines the perspectives of women and health care providers regarding women's concepts of reproductive health and attitudes toward infertility. The paper explores the supports and barriers to managing infertility at the individual, household, and community levels. The data presented was drawn from semi-structured interviews with health care providers and patients within a prevention of mother to child transmission program and focus group discussions with community men and women in four communities in Southern Malawi. Seventy-eight patients, 12 health care providers, and 32 community leaders participated in the study. The findings suggest that gender inequities and kinship relations intersect to produce infertility related stigma which exacerbates the social and cultural consequences of being infertile in these study communities. Social support from other women experiencing infertility is one strategy to help women manage the social and cultural burden of infertility in these study communities. These results shed light on the meaning of motherhood to women living in rural and periurban Sub-Saharan African communities and call for an expansion of infertility services, social services, and mental health services for both women and men who experience infertility. (Afr J Reprod Health 2022; 26[7]: 112-126).

Herbalists' explanations of infertility: The case of Northern and Southern Ghana

In sub-Saharan Africa, traditional medical practitioners also referred to as herbalists, offer diagnostics and therapeutics for diverse medical conditions irrespective of the cause. Given their traditional role as healers and repository of knowledge about medicinal plants, spirituality, customs and religion, people use their services regardless of their location, education, or socio-economic backgrounds. The aim of the study is to explore herbalists´ views and explanations on infertility and women with infertility. Using an exploratory qualitative design, semi-structured interviews were conducted with 10 herbalists, 5 from the North-East region, 2 from Ashanti region and 3 from the Greater Accra region. Following thematic analysis, findings show that infertility has multiple causes - medical, natural, spiritual and lifestyle. Some herbalists stated that everyone was created to bear children while others refuted this notion. They shared the common consensus that not everyone can have children even though they may be medically and spiritually fit. The public should be advised on the need for periodic reproductive health checks. Also, there should be a conscious, concerted efforts to gradually dissociate unhealthy explanations of infertility from the actual empirically proven realities.This would empower society to rise above those entrenched beliefs, thereby reducing the stigma associated with infertility and women with infertility. (Afr J Reprod Health 2022; 26[5]: 96-106).

Guiding significance of "disease-syndrome-symptom" mode in FU Qing-zhu's Obstetrics and Gynecology (FU Qing-zhu Nyu Ke) for dealing with ovulation disorder infertility caused by hyperprolactinemia / 中国中药杂志

This paper discussed the guiding significance of "disease-syndrome-symptom" mode in FU Qing-zhu's Obstetrics and Gynecology(FU Qing-zhu Nyu Ke) for dealing with ovulation disorder infertility caused by hyperprolactinemia(HPRL). FU Qing-zhu's Obstetrics and Gynecology(FU Qing-zhu Nyu Ke) concentrates on the disease entities, main symptoms, pathogenesis, and syndrome differentiation, based on which the prescriptions are prescribed. This reflects the "disease-syndrome-symptom" mode, with the core lying in the "combination of disease with syndrome". The contained Discussion on Menstruation Regulation(Tiao Jing Pian) and Discussion on Getting Pregnant(Zhong Zi Pian) have important reference significance for later doctors in the diagnosis and treatment of inferti-lity, and many prescriptions are still in use due to good effects. It is believed in traditional Chinese medicine(TCM) that HPRL results from kidney deficiency and liver depression, among which kidney deficiency is the main cause. Liver depression accelerates the onset of HPRL, so the kidney-tonifying and liver-soothing herbs were mainly selected. The "disease-syndrome-symptom" mode in FU Qing-zhu's Obstetrics and Gynecology(FU Qing-zhu Nyu Ke) sheds enlightenment on the diagnosis and treatment of ovulation infertility caused by HPRL, in that it is not confined to disease entity and syndrome type. The integration of "disease-syndrome-symptom" highlights the main complaint of patients and emphasizes the main pathogenesis, thus giving full play to the overall advantage of syndrome differentiation. For multiple diseases in FU Qing-zhu's Obstetrics and Gynecology(FU Qing-zhu Nyu Ke) such as infertility due to liver depression, infertility due to obesity, delayed menstruation, and irregular menstruation, although the typical lactation symptom of HPRL is not mentioned, the medication can still be determined according to the chief complaint, syndrome type, and symptoms and signs, making up for the defects of excessive reliance on serum biochemical indicators in modern Chinese medicine. We should learn its diagnosis and treatment thoughts of paying attention to liver, spleen, kidney, and heart, holism, and strengthening body resistance to eliminate pathogenic factors.

Effects of Transcutaneous Electrical Acupoint Stimulation on Ovarian Responses and Pregnancy Outcomes in Patients Undergoing IVF-ET: A Randomized Controlled Trial / 中国结合医学杂志

OBJECTIVE@#To evaluate the influence of different transcutaneous electrical acupoint stimulation (TEAS) modes on ovarian responses and pregnancy outcomes in patients with infertility undergoing in vitro fertilization and embryo transfer (IVF-ET).@*METHODS@#Two hundred infertility patients undergoing IVF-ET were divided randomly into experimental groups (TEAS groups: E-I, E-II, E-III, and E-IV, 40 cases each group) and a control group (mock TEAS group, 40 patients) using the random number method. The patients in the experimental groups received TEAS treatment of 20, 30, 40 and 50 mA for the E-I, E-II, E-III and E-IV groups, respectively. The control group received a treatment of 5 mA. TEAS was applied at acupoints of Guanyuan (RN 4), Zhongji (RN 3), Sanyinjiao (SP 6), Zigong (EX-CA 1), and Taixi (KI 13), once a day for 30 min each time for a treatment period of 10-13 d. Treatment effect was assessed using the following indicators: endometrial thickness on the 6th day of gonadotropin treatment (GN6 day), endometrial thickness on the day on chorionic gonadotropin administration (HCG day), number of ovarian follicles on HCG day, number of ova captured, amount of estrogen required for each harvested ova, number of mature ova divided by the total number of ova, percentage of high-quality embryos, and clinical pregnancy.@*RESULTS@#Endometrial thickness in the experimental groups on the HCG day was significantly better than that of the control group after TEAS stimulation (P=0.01). TEAS exhibited a greater impact on the number of ova captured (P=0.003). However, the effect of TEAS stimulation on the high-quality embryo rate and clinical pregnancy in patients was not statistically significant (P>0.05).@*CONCLUSIONS@#TEAS is an effective method in improving the ovarian state. When the stimulus intensity was at 40 mA and above, it could be helpful to improve the patient's endometrial condition and endometrial receptivity and to retrieve more oocytes. (Trial registration No. ChiCTR-TRC-11001780).

A rare case of dicentric ring chromosome and derivative ring chromosome Chimera / 中华医学遗传学杂志

OBJECTIVE@#Utilize high-resolution chromosome analysis and microarray detection to determine the genetic etiology of infertility of a 32-year old female patient.@*METHODS@#The peripheral blood of the patient was cultured for high-resolution chromosome G and C banding karyotype analysis, and then 750K SNP-Array chip detection was performed.@*RESULTS@#Karyotype analysis results showed that the patient's karyotype was 45,XX,-13 [7]/46,XX,r(13) (p13q34) [185]/46,XX,dic r(13;13)(p13q34;p13q34) [14]/ 47,XX,+der(13;13;13;13) (p13q34;p13q34;p13q34; p13q34), dic r(13;13) [1]/ 46,XX [3]. The microarray results showed that the patient had a 3.3 Mb deletion in the 13q34 segment of chromosome 13, which may be related to infertility.@*CONCLUSION@#Infertility of the patient reported in this article may be related to the deletion of chromosome segment (13q34-qter).

LIU Zhi-shun's experience in treatment of infertility with decreasing ovarian reserve with electroacupuncture / 中国针灸

To summarize LIU Zhi-shun's clinical experience in treatment of infertility with decreasing ovarian reserve (DOR) with electroacupuncture. LIU Zhi-shun believes that the location of infertility with DOR is the uterus, mainly involving the kidney, thoroughfare and conception vessels. He advocates to select acupoints by combining "disease-symptom-position" with prescription, and selects acupoint prescription of Bushen Tiaochong Zhuyun included Guanyuan (CV 4), Zigong (EX-CA 1), Tianshu (ST 25), Sanyinjiao (SP 6), Ciliao (BL 32) and Zhongliao (BL 33) for electroacupuncture treatment. The key points of operation are accurate positioning and deep acupuncture, focusing on regulating mind and getting qi, adopting electroacupuncture treatment and low frequency stimulation and treating slowly for long-term disease.

Importância do diagnóstico precoce da Chlamydia trachomatis / Importance of early diagnosis of Chlamydia trachomatis

A OMS estima que mais de 1 milhão de infecções sexualmente transmissíveis é adquirido todos os dias em todo o mundo. Dentre as ISTs, a clamídia é a principal causa da doença inflamatória pélvica e de infertilidade em mulheres em todo o mundo. Para esta pesquisa foi realizada uma revisão sistemática. O processo de revisão foi realizado através de uma busca na base de dados eletrônica, como PubMed, Scielo, Google Acadêmico, e em livros didáticos, utilizando os descritores infertilidade, IST, Chlamydia trachomatis. O objetivo deste estudo é buscar na literatura estudos que relatam a relação da Chlamydia trachomatis (CT) com problemas de infertilidade e os melhores métodos de diagnósticos e custo/benefício. O estudo concluiu que a CT é uma IST bastante prevalente no mundo e preocupante devido às complicações que muitas vezes são irreversíveis, como a infertilidade. Dentre os testes existentes no mercado, a PCR e a captura híbrida foram os que apresentaram melhor sensibilidade e especificidade.

The WHO estimates that more than 1 million sexually transmitted infections are acquired every day worldwide. Among STIs, chlamydia is the main cause of pelvic inflammatory disease and infertility in women worldwide. For this research a systematic review was carried out. The review process was carried out through a search in the electronic database, such as Pubmed, Scielo, Google Scholar and in textbooks, using the descriptors infertility, IST, Chlamydia trachomatis. The aim of this study is to search the literature for studies that report the relationship between CT and infertility problems and the best diagnostic methods and cost benefit. The study concludes that CT is an STI that is quite prevalent in the world and worrisome due to complications that are often irreversible such as infertility. Among the tests on the market, PCR and hybrid capture showed the best sensitivity and specificity.

Efecto de la diabetes sobre la espermatogénesis / Effect of diabetes on spermatogenesis

La evidencia clínica que ha permitido relacionar la diabetes mellitus con la infertilidad se basa en la importancia del metabolismo de la glucosa durante el proceso de espermatogénesis, debido a que en los episodios tanto de hipoglucemia como de hiperglucemia pueden ocurrir cambios epigenéticos en algunas proteínas involucradas en la espermatogénesis. En la presente comunicación se describen los aspectos teóricos de los efectos de la diabetes sobre el líquido seminal con énfasis en la espermatogénesis(AU)

The clinical evidence that has made it possible to link diabetes mellitus with infertility is based on the importance of glucose metabolism during the spermatogenesis process, because in episodes of both hypoglycemia and hyperglycemia, epigenetic changes can occur in some proteins involved in spermatogenesis. This communication describes the theoretical aspects of the effects of diabetes on seminal fluid with emphasis on spermatogenesis(AU)

Hormona antimülleriana como marcador de respuesta ovárica en pacientes tratadas por fertilización in vitro / Anti-Müllerian hormone as a marker of ovarian response in patients treated with in vitro fertilization

Introducción: La infertilidad afecta al 15 por ciento de las parejas en edad fértil, de las que aproximadamente 4-8 por ciento requerirán técnicas de reproducción asistida de alta tecnología. Con la incorporación de la mujer a la vida laboral y la consiguiente postergación de la maternidad es posible el aumento de la infertilidad. La hormona antimülleriana en la mujer se produce por las células de la granulosa. Esta regula el reclutamiento de folículos, su crecimiento y previene el agotamiento folicular, por lo que constituye una importante herramienta en los protocolos de inducción de la ovulación. Objetivo: Evaluar los niveles de la hormona antimülleriana como marcador de respuesta ovárica en pacientes tratadas por fertilización in vitro. Método: Se realizó un estudio descriptivo, observacional y de corte transversal en la consulta protocolizada de Reproducción Asistida del Hospital Clínico Quirúrgico Hermanos Ameijeiras, en el periodo comprendido de abril 2017 hasta abril 2019. La muestra quedó conformada por 137 mujeres que participaron en esta consulta. Se empleó estadística descriptiva e inferencial. Resultados: La edad promedio de las pacientes fue de 33,1 ± 7,4 años. Predominó la concentración sérica normal de la hormona antimülleriana en mujeres entre 31-35 años (26,3 por ciento), nivel normal de FSH en (39,4 por ciento), recuento de folículos antrales normal (24,1 por ciento), buena calidad ovocitaria (39,4 por ciento), y buena calidad embrionaria (36,5 por ciento). Conclusiones: El nivel sérico de la hormona antimülleriana se asoció significativamente a la edad, la hormona folículo estimulante, el recuento de los folículos antrales, y la calidad ovocitaria y embrionaria(AU)

Introduction: Infertility affects to 15 percent of the couples in childbearing age, and approximately 4-8 percent of them will need high-tech assisted reproduction techniques. With the participation of women in work life and the subsequent delay of maternity, it is possible the increase of infertility. Anti-Müllerian in women is produced by granular cells. These cells control the recruitment of follicles, their growth and prevent follicles exhaustion; therefore, it represents an important tool in the protocols of ovulation induction. Objective: Assess the levels of anti-Müllerian hormone as a marker in the ovarian response in patients treated with in vitro fertilization. Methods: It was conducted a descriptive, observational and cross-sectional study in the consultation of Assisted Reproduction in "Hermanos Ameijeiras" Surgical Clinical Hospital, in the period April, 2017 - April, 2019. The sample was formed by 137 women who attended to this consultation. It was used descriptive and inferential statistics. Results: Average age of the patients was 33,1 ± 7,4 years old. There was predominance of normal serum concentration of anti-Müllerian hormone in women among 31-35 years old (26,3 percent), FSH normal level in (39,4 percent), normal recount of antral follicles (24,1 percent), good oocyte quality (39,4 percent), and good embryonic quality (36,5 percent). Conclusions: The serum level of the anti-Müllerian hormone was significantly associated to age, the follicle-stimulating hormone, the recount of antral follicles, and the oocyte and embryonic quality(AU)

Miomectomía múltiple por vía abdominal / Multiple abdominal myomectomy

RESUMEN Se presentaron dos pacientes a las cuales se les realizó una miomectomía en los meses de enero y marzo de 2017, en la localidad de Luanda, Angola. Ambas fueron atendidas en la consulta de Ginecología por: aumento de volumen del abdomen, sangramiento genital durante la menstruación y fuera de ella, síntomas compresivos caracterizados por urgencia miccional y estreñimiento, además de infertilidad. Se les realizaron: exámenes de laboratorio, ultrasonido ginecológico y renal, así como histerosalpingografía. Después del análisis de estos exámenes se les diagnosticó una miomatosis uterina múltiple; fueron remitidas al salón de operaciones con previo consentimiento informado y se les practicó una miomectomía múltiple sin complicaciones transoperatorias. Se conservó el útero en ambas pacientes, las cuales tuvieron una recuperación postoperatoria satisfactoria. Una de estas pacientes logró un embarazo cinco meses después de la cirugía.

ABSTRACT We present two patients who had a myomectomy in January and March 2017, in Luanda, Angola. Both were treated in the Gynecology consultation due to increased abdominal volume, genital bleeding during and between periods, compressive symptoms characterized by urinary urgency, constipation and infertility. Laboratory tests, gynecological and renal ultrasound, as well as hysterosalpingography were performed. After the analysis of these tests, they were diagnosed with multiple uterine myomas, referred to the operating room with prior informed consent and underwent a multiple myomectomy without transoperative complications. The uterus was preserved in both patients, who had a satisfactory postoperative recovery. One of these patients got pregnant five months after surgery.

Cariótipos possíveis na síndrome de Klinefelter: uma revisão narrativa / Possible karyotypes in the syndrome Klinefelter: A Narrative Review

Os sinais clínicos da síndrome de Klinefelter foram observados pela primeira vez em 1942, mas sua etiologia só foi definida em 1959. Trata-se de uma condição genética na qual pelo menos um cromossomo X extra é adicionado ao cariótipo masculino normal (46,XY) e acomete cerca de 1 em cada 500 homens. É caracterizada por variabilidade fenotípica que leva a atraso ou ausência de diagnóstico, com uma estimativa de 50% a 75% de homens com Síndrome de Klinefelter nunca obterem o diagnóstico correto. Apesar de o cariótipo clássico (47,XXY) ser encontrado em 80%-90% dos pacientes e o mosaicismo (46,XY/47,XXY) nos 10% restantes, outros cariótipos podem ser encontrados menos frequentemente. Nesse sentido, este estudo tem por finalidade descrever os possíveis cariótipos identificados nos pacientes com Síndrome de Klinefelter. Os resultados mostram que a Síndrome de Klinefelter é usualmente diagnosticada na vida adulta e caracterizada por uma heterogeneidade citogenética quanto aos cariótipos possíveis apresentados pelos pacientes afetados. A condição foi diagnosticada precocemente quando associada à anomalia dos cromossomos autossomos, excesso de cromossomos X extra ou quando foi realizado diagnóstico pré-natal por idade materna avançada. É imprescindível que os profissionais de saúde, em especial os médicos, se familiarizem mais com essa condição, pois o diagnóstico correto e precoce permite a intervenção e tratamento adequados visando melhorar a qualidade de vida desses indivíduos.

Infertilidade e relevância de acompanhamento especializado para minimizar disfunções sexuais / Infertility and relevance of specialized monitoring to minimize sexual dysfunctions

Infertilidade é uma condição que afeta muitos casais. Entre 30% e 40% de mulheres em fertilização assistida apresentam depressão e ansiedade. O relacionamento conjugal também é atingido. Fatores psicossociais que podem tornar indivíduos inférteis mais vulneráveis ao estresse são: características de personalidade, sentimentos de ameaça ou de perda relacionados à infertilidade, percepção de pouco controle sobre a condição de infertilidade e o resultado do tratamento, utilização frequente de estratégias de enfrentamento caracterizadas por evitação e fuga, insatisfação conjugal e dificuldade de comunicação do casal e rede de apoio social insuficiente. Observou-se pequena associação, mas significativa, entre estresse e angústia e a redução das chances de gravidez com o tratamento. A infertilidade e as abordagens terapêuticas para fertilização provocam mudanças na autoestima, no relacionamento e na função sexual. As disfunções sexuais atingem as mulheres (43% a 90%) e os homens (48% a 58%). Além do sofrimento psíquico nas mulheres e em seus parceiros, o comprometimento da vida sexual do casal pode afetar a continuidade do relacionamento, inclusive para o enfrentamento dos desafios do casal que se torna pai e mãe, quando o tratamento é bem-sucedido. A confirmação de que a resiliência pode desempenhar função de proteção nesse percurso, fortalece a importância do acompanhamento psicológico, visando otimizar todos os recursos para melhor superação dessa fase da vida dos casais.