Laparoscopy as a Facilitator in the Early Diagnosis of a Mullerian Aplasia During Ordinary Surgery.

Laparoscopy was introduced more than 100 years ago. However, in some fields its use still meets resistance. Technology such as laparoscopy may help to identify rare and complex disorders, even in very ordinary procedures, such as inguinal hernia repair. This report highlighted the importance of early diagnosis of a complex condition using commonly available technology. To the best of our knowledge, there has not been a similar reported case in such a young patient during laparoscopic inguinal hernia repair.

Spontaneous Pubertal Onset in a Male Patient With Mixed Gonadal Dysgenesis With Mosaicism 45,X/ 46, X, mar (Y)/ 47,X,mar(Y),+mar(Y) - Pediatric Case Report.

This report describes an adolescent with Mixed Gonadal Dysgenesis and unexpected mosaicism [karyotype 46,X,mar(Y)/ 47,X, mar(Y),+mar(Y)].). Diagnosis with 1 month of age due to atypical genitalia. He presented a right streak gonad, which was removed due to the risk for germ cell tumor, and a left testis with epididymis barely connected and without vas deferens. Left testis maintenance was sufficient for him to undergo spontaneous puberty. The patient was non-responsive to growth hormone. Webbed neck was the only dysmorphic feature. To the best of our knowledge, there were no similar cases reported with spontaneous pubertal progress reported in the literature.

Laparoscopic gonad-sparing procedure in Ovotesticular disorder of sex development - Case video technique.

INTRODUCTION: Ovotesticular disorder of sex development (OTD) is a rare condition. There's a lack of literature addressing gonad-sparing surgery for OTD. OBJECTIVE: Report the laparoscopic partial gonadectomy technique - gonad-sparing surgery - in an 11-year-old child, 46, XX karyotype with OTD with atypical genitalia. MATERIAL AND METHODS: After a complete diagnostic evaluation the patient underwent feminizing genitoplasty followed by laparoscopic partial gonadectomy (gonad-sparing surgery). The patient was positioned on supine position and Trendelenburg. One 5 mm port was placed on the umbilicus and two 3 mm ports in both flanks. A gonadal wedge biopsy was performed to achieve histopathological confirmation before resection. The testicular component of the ovotestis is clearly identified based on macroscopic aspects, and resected with laparoscopic scissors and limited use of electrocautery. DISCUSSION: This case was classified as bipolar or terminal ovotestis. At the 5-month follow-up, the patient attained menarche. No adverse outcomes have been recorded. Postoperative third year follow-up hormone evaluation revealed a= female pattern characteristic and ultrasound demonstraed uterine volume increase, as well as bilateral ovarian tissue development with follicles. CONCLUSIONS: Gonad-sparing procedure is feasible and desirable whenever possible, especially in 46, XX patients with female sex of rearing, since it preserves the fertility potential. The risk of malignancy must be monitored.

Controversies on Timing of Sex Assignment and Surgery in Individuals With Disorders of Sex Development: A Perspective.

Appropriate management of disorders of sex development (DSD) has been a matter of discussion since the first guidelines were published in the 1950s. In the last decade, with the advent of the 2006 consensus, the classical methods, especially regarding timing of surgery and sex of rearing, are being questioned. In our culture, parents of DSD newborns usually want their children to undergo genital surgery as soon as possible after sexual assignment, as surgery helps them to confirm the assigned sex. Developmental psychology theories back this hypothesis. They state that anatomic differences between sexes initiate the very important process of identification with the parent of the same sex. Sex-related endocrinological issues also demand early care. For example, using dihydrotestosterone cream to increase penile length or growth hormone treatment to improve final height require intervention at young ages to obtain better results. Although the timing of surgery remains controversial, recent evidence suggests that male reconstruction should be performed between 6 and 18 months of age. Feminizing surgery is still somewhat controversial. Most guidelines agree that severe virilization requires surgical intervention, while no consensus exists regarding mild cases. Our perspective is that precocious binary sex assignment and early surgery is a better management method. There is no strong evidence for delays and the consequences can be catastrophic in adulthood.

Anomalias da diferenciação sexual: representações parentais sobre a constituição da identidade de gênero / Disorders of sex development: parental representations of gender identity construction

O estudo investigou as representações de mães e pais sobre a constituição de identidade de gênero em crianças nascidas com diagnóstico de Anomalias da Diferenciação Sexual (ADS). As ADS são distúrbios da diferenciação sexual que resultam em ambiguidade genital na criança. O estudo tem um delineamento qualitativo, com três mães e três pais de crianças nascidas com ADS, de diferentes idades. Utilizou-se a entrevista narrativa e a análise de conteúdo para coleta e análise dos dados. Os resultados mostraram que mães e pais entendem que a identidade de gênero se constitui através da anatomia da genitália, do sexo de criação com o qual a criança é educada e do reconhecimento social que a criança recebe no ambiente em que vive.(AU)

The present study investigated the representations of gender identity construction by mothers and fathers whose children were born with Disorders of Sex Development (DSD). DSD are disorders of sex differentiation which result in ambiguous genitalia in children. A qualitative study with three mothers and three fathers, whose children of different ages were born with DSD, was carried out. Narrative interviews and content analyses were, respectively, the methodological procedures used to collect and analyze the data. Results showed that the criteria mothers and fathers consider as fundamental for the gender identity construction are the genital anatomy, how the child is raised, and the social recognition of the environment where the child lives.(AU)

Anomalias da diferenciação sexual: representações parentais sobre a constituição da identidade de gênero / Disorders of sex development: parental representations of gender identity construction

O estudo investigou as representações de mães e pais sobre a constituição de identidade de gênero em crianças nascidas com diagnóstico de Anomalias da Diferenciação Sexual (ADS). As ADS são distúrbios da diferenciação sexual que resultam em ambiguidade genital na criança. O estudo tem um delineamento qualitativo, com três mães e três pais de crianças nascidas com ADS, de diferentes idades. Utilizou-se a entrevista narrativa e a análise de conteúdo para coleta e análise dos dados. Os resultados mostraram que mães e pais entendem que a identidade de gênero se constitui através da anatomia da genitália, do sexo de criação com o qual a criança é educada e do reconhecimento social que a criança recebe no ambiente em que vive...

The present study investigated the representations of gender identity construction by mothers and fathers whose children were born with Disorders of Sex Development (DSD). DSD are disorders of sex differentiation which result in ambiguous genitalia in children. A qualitative study with three mothers and three fathers, whose children of different ages were born with DSD, was carried out. Narrative interviews and content analyses were, respectively, the methodological procedures used to collect and analyze the data. Results showed that the criteria mothers and fathers consider as fundamental for the gender identity construction are the genital anatomy, how the child is raised, and the social recognition of the environment where the child lives...

Abuso sexual infantil e características da família em situação de risco - um olhar da psicologia frente ao manejo da equipe multiprofissional em um hospital geral

Este artigo tem por objetivo fazer uma reflexão acerca do abuso infantil, considerando as características da família na qual a criança está inserida. O estudo é baseado em uma revisão da literatura sobre o tema, com base em temáticas atuais, além de relato de experiência a partir de casos que foram acompanhados pela psicologia em um hospital geral de saúde pública. Desta forma, torna-se indispensável a discussão de temas como: abuso sexual infantil e suas consequências emocionais, características da família em situação de risco, e o manejo subsidiar intervenções adequadas e terapêuticas por parte dos profissionais da saúde, respeitando dor e o sofrimento emocional de crianças vítimas de abuso sexual e de suas famílias