Himen imperforado con hematocolpos. A propósito de un caso / Imperforate hymen with hematocolpos. Apropos of a case

RESUMEN Los defectos en la canalización de la membrana himeneal causan obstrucción del tracto genital femenino. Como consecuencia aparece hematocolpos, resultante de la acumulación y retención de secreciones cervicovaginales -sangre en útero y vagina-, ante la imposibilidad de su evacuación por la presencia de un himen imperforado. Clínicamente aparece masa abdominal, asociada con malformaciones vaginales congénitas. Se presentó el caso de una adolescente de 13 años que refirió retención urinaria, disuria, dolor y masa en hipogastrio, y ausencia de la menarquía a pesar de un desarrollo puberal en estadio Tanner III. Al realizar ultrasonido se constató sangre en el útero, debido a imperforación himeneal que se resolvió mediante himenotomía. La patología de himen imperforado con hematocolpos debe estar entre los posibles planteamientos sindrómicos de aquellas pacientes con cuadros similares; puede diagnosticarse en la Atención Primaria de Salud a partir de una detallada anamnesis y exploración física, aunque la comprobación requiere ecografía (AU).

ABSTRACT The defects in the channeling of the himeneal membrane cause obstruction in the female genital tract. As consequence hematocolpos appears, resulting from the accumulation and retention of cervicovaginal secretions -blood in the uterus and vagina-, due to the impossibility of its evacuation because of the presence of an imperforate hymen. Clinically, abdominal mass appears associated to congenital vaginal malformations. We presented the case of teenager aged 13 years that referred urine retention, dysuria, pain, had a mass in the hypogastrium, and absence of menarche in spite of a Tanner III pubertal development. An ultrasound showed blood in the uterus due to hymeneal imperforation solved through hymenotomy. The pathology of imperforate hymen with hematocolpos should be among the possible syndrome considerations in those patients with the same characteristics; it can be diagnosed in the primary health care from anamnesis and physical exploration, although the verification requires an ultrasound (AU).

Nova classificação para hipertrofia dos pequenos lábios vaginais e correlação com as técnicas cirúrgicas indicadas / New classification of hypertrophy of the labia minora and correlation with indicated surgical techniques

Introdução: Primeira colocada entre as mais procuradas cirurgias plásticas genitais, a ninfoplastia ou labioplastia visa a correção da hipertrofia dos pequenos lábios vaginais e prepúcio, retirando seu excesso, sem interferir na sua função de proteção da vagina e auxílio na lubrificação genital. Diversos tipos de classificações foram propostos para facilitar a compreensão do grau de hipertrofia dos pequenos lábios vaginais e ajudar na escolha da técnica da labioplastia. Após analisar várias classificações, o autor propõe uma nova classificação, no intuito de facilitar a compreensão da hipertrofia das ninfas, capuz do clitóris e prepúcio e ajudar na escolha da técnica apropriada para labioplastia. Métodos: Foi feita uma busca na literatura médica PubMed/Medline com os termos hipertrofia lábios vaginais, labioplastia, labiaplasty, labioplasty, lábia minora hipertrophy, labial protrusion. Foram analisadas todas as classificações descritas nos trabalhos encontrados. Resultados: Uma nova classificação foi proposta. A hipertrofia dos pequenos lábios vaginais foi classificada em 4 graus: Grau 0 (≤ 1 cm), Grau 1 (> 1 cm e ≤ 3 cm), Grau 2 (> 3 cm e ≤ 5 cm) e Grau 3 (> 5 cm). Conclusões: A nova classificação, além de facilitar a compreensão do tamanho e extensão da hipertrofia das ninfas, também auxilia na escolha da técnica a ser escolhida para a labioplastia.

Introduction: Nymphoplasty or labioplasty is the most common genital plastic surgery. The objective of labioplasty is to correct hypertrophy of the labia minora and clitoral prepuce, removing excess tissue without affecting their function of protecting the vagina and aiding in genital lubrication. Several types of classifications have been proposed to facilitate the understanding of the degree of hypertrophy of the labia minora and assist in selecting the most suitable procedure in labioplasty. After analyzing several classifications, the author proposes a new classification to facilitate the understanding of hypertrophy of the labia minora, clitoral hood, and vaginal prepuce and help select the best labioplasty procedure. Methods: A literature search was conducted in PubMed/Medline using the following terms: hipertrofia lábios vaginais, labioplastia, labiaplasty, labioplasty, labia minora hypertrophy, and labial protrusion. All the classifications described in the identified studies were analyzed. Results: A new classification has been proposed. Hypertrophy of the labia minora was classified in four grades: grade 0 (≤ 1 cm), grade 1 (> 1 cm and ≤ 3 cm), grade 2 (> 3 cm and ≤ 5 cm), and grade 3 (> 5 cm). Conclusions: The new classification improves the understanding of the size and extent of hypertrophy of the labia minora and helps select the best procedure in labioplasty.

Síndrome PAGOD y anomalías vasculares: ¿es un defecto de la angiogénesis embrionaria? Un nuevo caso y revisión / PAGOD syndrome and vascular anomalies: is a defect embryonic angiogenesis? A case report and review

El Síndrome PAGOD es un acrónimo de hipoplasia de pulmón y arterias pulmonares, agonadismo, onfalocele / defecto diafragmático y dextrocardia. Se describe una serie de 21 pacientes, en la cual, 90,5 % presentó un cariotipo 46,XY y solo dos casos 46,XX; el 66,6 % exhibió un fenotipo femenino y 28,6 % genitales ambiguos. La ocurrencia de dos paciente 46,XX excluye al cromosoma Y como portador del defecto genético y plantea la posibilidad de una herencia recesiva ligada al cromosoma X, sin descartar que los casos observados en hermanos puedan deberse a mutaciones en otros genes como STRA6, VEGFA, VEGFB, VEGFC, transcritos de empalmes alternativos de VEGFA, HIF1, HIF2, entre otros. Las malformaciones congénitas observadas en los pacientes fueron: genitales y gónadas 85,7 %, diafragma y pared 66,6 %, cardíaco 80,9 %, pulmonar 71,4 %, vascular 80,9 % y abdomen 42,8 %. La revisión de los pacientes ha demostrado un alto grado de variabilidad en la expresividad de malformaciones de órganos, aparatos o sistemas. Las malformaciones vasculares representan un componente importante y característico del síndrome PAGOD y cuya base morfogenética del síndrome pueda deberse a un defecto de la angiogénesis embrionaria temprana con repercusión en la organogénesis de aparatos y sistemas. Dentro de los genes relacionados con el remodelamiento vascular durante la embriogénesis, regeneración tisular y carcinogénesis está el Factor de Crecimiento del Endotelio Vascular D (VEGFD), localizado en Xp22.31, con expresión en pulmón, corazón, intestino delgado, pulmón fetal, útero, mamas, tejido neural y neuroblastoma, el cual representa un fuerte candidato para su análisis molecular como una de las posibles causa del síndrome.

PAGOD Syndrome is an acronym for lung and pulmonary arteries hypoplasia, agonadism, omphalocele / diaphragmatic defect and dextrocardia. A series of 21 patients is described, where 90.5% had a 46,XY karyotype and only two cases 46,XX; 66.6% exhibited a female phenotype and 28.6% ambiguous genitalia. The occurrence of two patients 46,XX excludes the Y chromosome as a carrier of the genetic defect and raises the possibility of a recessive X-linked inheritance, without ruling out that the observed cases in siblings may be due to mutations in other genes as Stra6, VEGFA, VEGFB, VEGFC, and alternative splicing of transcripts VEGFA, HIF1, HIF2, among others. Congenital malformations were observed in patients’ genitals and gonads 85.7%, 66.6% in diaphragm and abdominal wall , heart 80.9%, 71.4% lungs, blood vessels 80.9% and 42.8% in abdomen. The review of patients has demonstrated a high degree of variability in the expression of malformations of organs and organ systems. Vascular malformations represent an important and characteristic component of PAGOD syndrome and whose base morphogenetic syndrome may be due to a defect in early embryonic angiogenesis with impact on organogenesis and system development. Among genes related to vascular remodeling during embryogenesis, tissue regeneration and carcinogenesis, the Endothelial Growth Factor D Vascular (VEGFD), located in the Xp22.31 region, with expression in lung, heart, small intestine, uterus, breast, neuroblastoma and neural tissue, represents a strong candidate for molecular analysis as a cause of the syndrome.

Quince años de estudio sobre las adherencias de labios menores / Fifteen-Year Study on the Labial Adhesions

Introducción: las adherencias de labios menores es un problema ginecológico frecuente en niñas prepuberales. De las niñas que lo padecen en algún momento de su vida (1,8 por ciento), el pico de mayor incidencia está entre los 13 y 23 meses de edad. Objetivo: mostrar los resultados de esta experiencia en el diagnóstico y manejo de esta entidad. Métodos: se realizó un estudio descriptivo, longitudinal y retrospectivo. Se revisó la totalidad de las historias clínicas de 804 niñas atendidas desde el 1º de enero de 1998 hasta el 31 de diciembre de 2012. La muestra quedó integrada por 54 casos con diagnóstico de adherencias de labios menores. Las variables estudiadas fueron: edad al diagnóstico, motivo de consulta, hallazgos clínicos, tipo de sinequia, tratamiento impuesto, entre otras. Resultados: hubo mayor incidencia de sinequias en niñas entre 3 meses y 3 años (74 por ciento), con predominio de la variedad incompleta y dentro de esta la del tercio inferior (66,6 por ciento). La distorsión anatómica de los genitales externos resultó el principal motivo de consulta (42,6 por ciento). Los mejores resultados del tratamiento se lograron con la combinación de medidas higiénicas y ejercicios de tracción lateral vulvar con el uso tópico de estrógenos. Las recidivas se presentaron en 12,9 por ciento de los casos a los seis meses de edad. Conclusiones: la adherencia de labios menores es una causa importante de consulta ginecológica en niñas. Se asocia a una gran ansiedad en padres y familiares. Se obtuvo buenos resultados con el tratamiento médico, sobre todo cuando se empleó estrógenos localmente(AU)

Introduction: Labial adhesions is a common gynecological problem in prepubertal adolescents. The highest peak incidence is between 13 and 23 months old of those girls sufferingfrom this problem at some point in their life (1.8 percent). Objective: Show the results of this experience in the diagnosis and management of this condition. Methods: A descriptive, longitudinal and retrospective study was conducted at revising all the medical records of 804 girls assisted from 1st January 1998 to 31st December, 2012. The sample was composed of 54 cases diagnosed with labial adhesions. The variables studied were age at diagnosis, presenting complaint, clinical findings, type of synechia, treatment, among others. Results: There was higher incidence of synechiae in children between 3 months and 3 years (74 percent), predominantly incomplete, andin the lower third (66.6 percent). The anatomical distortion of the external genitalia was the main reason for consultation (42.6 percent). Best treatment results were achieved with the combination of hygienic measures and vulvar lateral traction exercises with topical estrogen use. Recurrences occurred in 12.9 percent of cases at six months of age. Conclusions: Labialadhesion is a major cause of gynecological consultation in girls. It is associated with great anxiety in parents and relatives. Good results were obtainedwith medical treatment, especially when the topical use of estrogen(AU)

Colgajo plantar medial sensibilizado en la isla: a propósito de dos casos y revisión de la literatura / Sensitized medial plantar flap island: a report of two cases and review of the literature

Por las particulares características de la región plantar, los defectos de esta zona continúan siendo en la actualidad un problema desafiante para el cirujano reconstructivo. El objetivo de este trabajo es la descripción de dos casos clínicos que presentaban un defecto en el talón secundario a la resección de un melanoma. Ambos casos fueron resueltos sin complicaciones mayores utilizando el colgajo plantar medial sensibilizado en isla. Se discute la revisión de la literatura, se describe la anatomía y técnica quirúrgica, se mencionan las complicaciones y modificaciones actuales del colgajo. En la ladera reconstructiva, hoy en día, el colgajo plantar medial ocupa el tratamiento de elección para la reconstrucción de defectos de mediano tamaño en el talón, evidenciando previamente la integridad vascular del pie...

Because of the specialized characteristics of the plantar foot, defects in this region continue to be a challenging problem for the reconstructive surgeon. The objective of this reports is to present two male patients who had heel defects secondary to a melanoma resection. Both cases were solved without mayor complications using a sensate island medial plantar flap. We comment the literature review, describe the anatomy and surgical technique, mention the complications and actual modifactions of this flap. At this moment, the medial plantar flap is the workhorse for the reconstruction of medium sized heel defects in a foot with an intact vascular supply...

Nymphoplasty: classification and technical refinements / Ninfoplastia: classificação e refinamentos técnicos

BACKGROUND: Hypertrophy of the labia minora is a functional and esthetic problem that can have a significant impact on quality of life. Current surgical procedures are based on the excision of excess tissue and reconnection of the edges. However, anatomical alterations associated with labial hypertrophy such as hypertrophy of the foreskin of the clitoris are common, and, if not treated properly, may limit the results of surgery and cause esthetic and functional sequelae. The present report proposes a classification of the different types of hypertrophy and recommended treatments, and describes refinements in the labia minora reduction techniques. METHODS: A total of 20 female genital plastic surgery cases from the Center for Plastic Surgery of Brasilia and at Hospital das Forças Armadas from June 1999 to March 2008 were retrospectively reviewed. Patients were classified into three groups according to the degree and location of labia minora hypertrophy. RESULTS: The patients were satisfied with the esthetic results of surgery. No complications were reported, and all patients underwent surgery of the labia minora in accordance with the protocol proposed by the authors and based on hypertrophy type. CONCLUSIONS: The surgical procedures reviewed in this study were based on the classification of labia minora hypertrophy. Satisfactory esthetic and functional results were obtained, thus providing new methods for the surgical reduction of labia minora and foreskin of the clitoris without surgical stigma or reduction of sensitivity and no effects on sexual function.

INTRODUÇÃO: A hipertrofia dos pequenos lábios traz problemas estéticos e de comprometimento do comportamento íntimo e social. As técnicas existentes, via de regra, propõem excisão do excesso de tecido e reaproximação das bordas; entretanto, diferenças anatômicas são comuns e, frequentemente, observa-se hipertrofia do prepúcio do clitóris associada a aumento dos pequenos lábios. Essas alterações, se não tratadas adequadamente, limitam o resultado, podendo produzir sequelas estéticas e funcionais. Este trabalho propõe uma classificação dos tipos de hipertrofia, com tratamento diferenciado para cada um deles, além de refinamentos técnicos na abordagem da hipertrofia dos pequenos lábios. MÉTODO: Estudo retrospectivo de 20 casos de plástica genital feminina, realizada no Centro de Cirurgia Plástica de Brasília e Hospital das Forças Armadas, no período de junho de 1999 a março de 2008. As pacientes foram classificadas em três grupos, de acordo com o grau e a localização da hipertrofia dos pequenos lábios. RESULTADOS: As pacientes mostraram-se muito satisfeitas com o aspecto estético proporcionado pela cirurgia. Não foram verificadas complicações relacionadas aos procedimentos realizados. Todas as pacientes foram submetidas a tratamento cirúrgico dos pequenos lábios de acordo com o protocolo proposto pelos autores, baseado no tipo de hipertrofia. CONCLUSÕES: Os procedimentos cirúrgicos realizados, propostos de acordo com a classificação da hipertrofia dos pequenos lábios, permitiram a obtenção de resultados estéticos e funcionais satisfatórios, proporcionando à paciente oportunidade de redução do excesso dos pequenos lábios e do prepúcio do clitóris, sem criar estigmas cirúrgicos ou diminuição da sensibilidade, não prejudicando, portanto, a função sexual.

Malformações genitais e erros genéticos / Genital malformations and genetical errors

A proposta deste estudo foi revisar os fatores genéticos e as anomalias cromossômicas passíveis de condicionarem anormalidades no aparelho genital feminino.

The aim of this study was to review the genetic factors and chromosomal abnormalities that can create Mullerian malformations in females' genital tract.

Ambiguous genitalia: two decades of experience

Ambiguous genitalia is a complex, medical and social emergency. The aim of this study is to present our experience over two decades, focusing on the pattern and clinical presentation. A retrospective study conducted in the pediatric endocrine clinic at a university hospital in Saudi Arabia during the period 1989-2008. Medical records of children with ambiguous genitalia were reviewed and the genitalia described. Of the 81 children with ambiguous genitalia, 53 [65.4%] patients were genetically females [46XY], with congenital adrenal hyperplasia being the common cause in 51 [96.5%] patients. Hyperpigmentation, variable degrees of salt wasting and a family history of a similar problem helped in diagnosis. Male genetic sex [46XY] was present in only 28 [34.6%] patients with a diversity of causes; multiple congenital anomalies in 9 [32.1%], local anorectal anomalies in 2 [7.1%], congenital adrenal hyperplasia [3-[beta-hydroxysteroid dehydrogenase deficiency] in 2 [7.14%], 5-alpha-reductase deficiency in 4 [14.28%], partial androgen insensitivity in 3 [10.7%], complete androgen insensitivity in 4 [14.28%], and hypogonadotrophin deficiency in 4 [14.3%]. Twenty-five [47.2%] of females were wrongly assigned as males, where only two [7.1%] males were wrongly assigned as females. Ambiguous genitalia, currently termed disorders of sex development [DSD], is not uncommon in our community. Increased awareness, a detailed history, and a careful physical examination, coupled with appropriate laboratory and radiological investigations aid in early diagnosis and avoid serious sequelae

Isolated labial fusion as a cause of acute urinary retention in early adolescent period

Fusion of the labia majora is generally an acquired defect because of local inflamation, trauma and vaginal lacerations. In postmenauposal period, it is associated with lichen sclerosis. It is typically found in young neonates or prepubertal girls when the labia and vagina are not adequately estrogenized. In this study, a 14-year adolescent with labial fusion as a cause of acute urinary retention is presented

Conduta frente às malformações genitais uterinas: revisão baseada em evidências / Medical care for uterine genital malformations: evidence-based review

Este trabalho de revisão foi idealizado para analisar as malformações dos ductos de Müller, que, devido à sua frequência de 3 a 7,3% na população em geral, justificam uma análise mais profunda do tema. O objetivo foi avaliar, de acordo com a literatura por meio de metodologia adequada? Os aspectos mais relevantes dessas anomalias, com destaque para a etiopatogenia, classificação, diagnóstico e tratamento. Os resultados obtidos nesta revisão apontaram as melhores evidências, até o momento, de como conduzir as mulheres portadoras dessas malformações.

This review paper was organized in order to analyse Müllerian anomalies, because their frequency from 3 to 7,3% in people in general justify a better evaluation about these malformations. The objective of the study was to evaluate, according to literature - by a proper methodology - the main aspects of these malformations, with special attention to etiology, classification, diagnostic and treatment. The results of this review showed the best evidences up till now of how to manage women with these genital malformations.

Two cases of ambigious genitalia

The term "Ambiguous genitalia" applies to confusing appearance of the external genitalia. Sex assignment becomes essential for the parent's peace of mind, and in turn depends on anatomy and functional endocrinology rather than karyotype. Two cases with all different genetic sex, gonadal sex and phenotypic sex are described. First case is that of congenital adrenal hyperplasia [CAH] in a month old baby whose genotype was female with laboratory investigations exposing her diagnosis. She is doing well with oral hydrocortisone and fludrocortisone. Second case is that of probable 5-alpha reductase deficiency who would probably need future surgery

Síndrome de Mayer-Rokitansky-Küster-Hauser / Mayer-Rokitansky-Kuster-Hauser

Las agenesias de Müller también se conocen como síndrome de Mayer-Rokitansky-Küster-Hauser y se presenta como amenorrea primaria y desarrollo de características sexuales secundarias. El síndrome se presenta en 1 en 5000 mujeres. El 5% puede tener pequeñas cantidades de endometrio, y raramente presentan menstruación asociado a dolor cólico cíclico mensual. Este es un caso de una paciente de 16 años, con historia de dolor pélvico cíclico que posteriormente se fue intensificando...

[External genital anomalies in newborn babies]

External genital anomalies are common congenital anomalies, especially in male newborns. It seems that the incidence of these anomalies is increasing. Although the etiology of these anomalies is obscure in most cases, genetic and environmental factors have important roles. This study aimed to determine the types and frequency of these anomalies in newborn babies and to compare the results with those of a study which was conducted in the same hospital in 1991. In a descriptive analytic and cross-sectional study, all babies born March 2005 to February 2006 in Alzahra Hospital, Tabriz, were recruited. 6800 newborns consisting of 3475 [51.1%] boys and 3325 [48.9%] girls were studied. No anomaly was found in girl newborns, but 6.6% of boys had external genital anomalies. Undescended testis and hypospadias were first and second common anomalies. In comparison with the previous study, the frequency of anomalies was higher in preterm and low birth weight babies, babies of related parents and older mothers. The frequency of external genital anomalies had an ascending trend in the last decade. Low birth weight, preterm delivery, high maternal age, and related parents are risk factors for these anomalies

O pediatra frente a uma criança com ambigüidade genital: [revisão] / The role of the pediatrician in the management of children with genital ambiguities: [review]

OBJETIVO: Apresentar os critérios diagnósticos de ambigüidade genital, a conduta médica inicial e a postura esperada do pediatra. FONTES DOS DADOS: Revisão de literatura científica por meio de artigos publicados no MEDLINE nos idiomas inglês e português, no período de 1990 a 2007 e na faixa etária pediátrica. SÍNTESE DOS DADOS: O pediatra tem papel fundamental na avaliação da ambigüidade genital, cujo objetivo é obter diagnóstico etiológico preciso no menor tempo possível para definição do sexo e estabelecimento dos procedimentos terapêuticos. Há critérios diagnósticos específicos, porém, de modo geral, uma genitália é ambígua sempre que houver dificuldade para se atribuir o sexo à criança. O pediatra deve informar à família que a definição do sexo dependerá de investigação laboratorial minuciosa, feita preferencialmente por equipe interdisciplinar em serviço terciário. O cariótipo 46,XX ou 46,XY não é suficiente para definir o sexo de criação, porém esse exame é fundamental para direcionar a investigação. Quando não houver gônadas palpáveis, a primeira hipótese deve ser hiperplasia adrenal congênita. Entre as outras causas, estão insensibilidade parcial a andrógenos, deficiência da enzima 5alfa-redutase, disgenesia gonadal parcial e hermafroditismo. A família deve receber apoio e informações durante todo o processo de avaliação, e sua participação é fundamental na decisão sobre o sexo de criação. CONCLUSÕES: Embora casos de ambigüidade genital sejam relativamente raros para o pediatra, este deve estar informado sobre o tema e a conduta adequada a tomar, pois freqüentemente será o responsável pela orientação inicial da família e pela ligação entre esta e a equipe interdisciplinar.

OBJECTIVE: To present the diagnostic criteria of genital ambiguity, the initial medical management and the attitude expected of pediatricians. SOURCES: Review of the scientific literature in the form of articles indexed on MEDLINE, in English and Portuguese, published between 1990 and 2007 and dealing with the pediatric age group. SUMMARY OF THE FINDINGS: Pediatricians have a fundamental role to play in the assessment of genital ambiguity, the purpose of which is to arrive at an etiologic diagnosis in the shortest possible time in order to define the patient's sex and plan treatment. There are specific diagnostic criteria, but, in general, genitalia are ambiguous whenever there is difficulty in attributing gender to a child. The pediatrician should inform the patient's family that assignment of their child's sex will depend upon detailed laboratory investigations, preferably carried out by a multidisciplinary team at a tertiary service. The 46,XX or 46,XY karyotypes are not alone sufficient to define the gender of rearing, although the test is fundamental to guide the investigation. When there are no palpable gonads, the first hypothesis should be congenital adrenal hyperplasia. Other causes included partial androgen insensitivity, 5alpha-reductase deficiency, partial gonadal dysgenesis and hermaphroditism. The family should be provided with support and information throughout the assessment process, and their participation is fundamental in the decision of which gender to rear the child in. CONCLUSIONS: Although cases of genital ambiguity are relatively rare for pediatricians, they should be well-informed on the subject and the correct management of these conditions, since they will often be responsible for the initial guidance that families receive and for maintaining contact between them and the multidisciplinary team.

Estado atual do tratamento das malformações genitais / Up-to-date on treatment of mullerian anomalies

As malformações genitais, felizmente pouco freqüentes, são assunto de pouco conhecimento na prática clínica, e por isso, muitas vezes mal conduzidas, prejudicando a qualidade de vida e o futuro reprodutivo das mulheres portadoras. Geralmente, o diagnóstico é tardio, vindo a ocorrer apenas na idade reprodutiva, quando se atenta pela ausência de menstruação, ou por dificuldade de se iniciar a relação sexual, ou ainda, por quadros de infertilidade ou abortamentos de repetição. Muitas destas anomalias podem ser tratadas, proporcionando a estas mulheres uma vida sexual saudável, como nos casos de agenesias vaginais, casos de anomalias obstrutivas, com criptomenorréia, casos de anomalias uterinas, com gestações exitosas após correção cirúrgica. Devido à grande variedade de malformações, várias tentativas de classificá-las foram improdutivas, ou por serem simples demais ou muito complexas, dificultando seu entendimento e a escolha do tratamento. Para eliminar estas dificuldades, a Sociedade Americana de Fertilidade elaborou em 1988 uma classificação que separa as anomalias em grupos com as mesmas manifestações clínicas, o mesmo prognóstico reprodutivo e o mesmo tratamento.

Síndrome de Mayer-Rokitansky-Kuster-Hauser: a propósito de un caso / Síndrome de Mayer-Rokitansky-Kuster-Hauser: a case

Se presenta caso de una paciente de 26 años de edad, que acude a consulta por amenorrea primaria. Examen físico: fenotípicamente femenina, cuello de base ancha, genitales externos normales, genitales internos con ausencia de vagina. Exámenes complementarios: ecografía abdomino-pélvica, TAC de abdomen y pelvis, urografía de eliminación: ausencia de útero, riñón izquierdo y su sistema excretor; riñón derecho único, rotado y ectópico (pélvico), con ectasia del sistema excretor. Radiología: fusión de cuerpos vertebrales C5 - C6 con reducción de diámetros AP, costillas cervicales, elevación de escapula espina bífida en S1 y sublujación derecha de segmentos coccígeos. Función del eje hipotálamo-hipófisis- ovario normal. Cariotipo: 46 XX. Laparoscopia confirma el diagnóstico de s¡ndrome de Mayer-Rokitansky-Kuster-Hauser. Se realizó una vulvovaginoplastia utilizando injerto de piel.

Turner syndrome: counseling prior to oocyte donation

Ovarian failure is a typical feature of Turner syndrome (TS). Patients are followed clinically with hormone replacement therapy (HRT) and inclusion in the oocyte donation program, if necessary. For patients with spontaneous puberty, genetic counseling regarding preimplantation genetic diagnosis and prenatal diagnosis is indicated. Patients with dysgenetic gonads and a Y chromosome are at increased risk of developing gonadoblastoma. Even though this is not an invasive tumor, its frequent association with other malignant forms justifies prophylactic gonadectomy. It is important to perform gonadectomy before HRT and pregnancy with oocyte donation. Among patients with TS stigmata and female genitalia, many have the Y chromosome in one of the cell lines. For this reason, all patients should undergo cytogenetic analysis. Nevertheless, in cases of structural chromosomal alterations or hidden mosaicism, the conventional cytogenetic techniques may be ineffective and molecular investigation is indicated. The author proposes a practical approach for investigating women with TS stigmata in whom identification of the X or Y chromosome is important for clinical management and follow-up.

A falência ovariana é um achado típico da síndrome de Turner (ST). As pacientes podem ser submetidas à terapia de reposição hormonal (TRH) e incluídas em programas de doação de oócito, quando necessário. Para as pacientes com puberdade espontânea, está indicado o aconselhamento genético para a futura descendência abordando os diagnósticos genéticos pré-natal e pré-implantação. Pacientes com gônadas disgenéticas e cromossomo Y apresentam risco aumentado para desenvolvimento de gonadoblastoma. Embora esse tumor não seja invasivo, sua associação freqüente com tumores malignos justificaria a gonadectomia profilática. Entre as pacientes com estigmas da ST e genitália feminina, muitas apresentam cromossomo Y em pelo menos uma linhagem celular. Por essa razão, todas as pacientes devem ser submetidas à análise citogenética, para a realização de cirurgia antes do início da TRH e da gravidez com doação de oócito. No entanto, em casos de alteração cromossômica estrutural ou mosaicismo críptico, as técnicas citogenéticas convencionais podem não ser efetivas, estando indicada a investigação molecular. Uma abordagem prática para o médico investigar as pacientes com ST é proposta neste artigo, devido à importância da identificação do cromossomo Y ou de um segundo cromossomo X para o manejo clínico e o acompanhamento das pacientes.

Anatomical study on true hermaphroditism in an Indian pig (Sus Scrofa Domesticus)

A pig was confirmed to be a true hermaphrodite on the basis of gross and histomorphological studies of the genital organs. The genitalia was consisted of left ovary, oviduct, two coiled uterine horns, body of uterus alongwith right testis and an epididymis. Vagina and vulva were absent but male urethra with prostate gland was present. Grossly the size of all the genital organs appeared to be normal. Histomorphologically, testis and epididymis were underdeveloped as there was no clearcut spermatogenia and sertoli cells but Leydig cells were normal. The ovary presents normal histological features with some portion of testicular tissue. Degeneration of uterine epithelium was observed along with normal endometrial glands.