Abstract

Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective study during 23 years at outpatient clinic of a referral center. Results. There were 408 cases; 250 (61.3%) were 46,XY and 124 (30.4%) 46,XX and 34 (8.3%) had sex chromosomes abnormalities. 189 (46.3%) had 46,XY testicular DSD, 105 (25.7%) 46,XX ovarian DSD, 95 (23.3%) disorders of gonadal development (DGD), and 19 (4.7%) complex malformations. The main etiology of 46,XX ovarian DSD was salt-wasting 21-hydroxylase deficiency. In 46,XX and 46,XY groups, other malformations were observed. In the DGD group, 46,XY partial gonadal dysgenesis, mixed gonadal dysgenesis, and ovotesticular DSD were more frequent. Low birth weight was observed in 42 cases of idiopathic 46,XY testicular DSD. The average age at diagnosis was 31.7 months. The final sex of rearing was male in 238 cases and female in 170. Only 6.6% (27 cases) needed sex reassignment. Conclusions. In this large DSD sample with ambiguous genitalia, the 46,XY karyotype was the most frequent; in turn, congenital adrenal hyperplasia was the most frequent etiology. Malformations associated with DSD were common in all groups and low birth weight was associated with idiopathic 46,XY testicular DSD.

Highlights

  • One of many possible medical emergencies in newborns is genital ambiguity that has significant importance both immediately after birth, such as congenital adrenal hyperplasia and certain malformation syndromes that may present potential risk to child’s life, and in the long term, such as unresolved sex definition that may cause irreversible psychosocial effects for patients and their families [1, 2]

  • Two years later Sax questioned this estimative arguing that the author had included patients without genital ambiguity, such as those with Turner and Klinefelter syndromes and the nonclassical form of congenital adrenal hyperplasia and suggested that the incidence of disorders of sex development (DSD) with genital ambiguity would be 0.0018% [5]

  • All cases of ambiguous genitalia seen at the Outpatient Clinic of GIEDDS, FCM, HC, University of Campinas (UNICAMP), between January 1989 and December 2011 were included in the study

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Summary

Introduction

One of many possible medical emergencies in newborns is genital ambiguity that has significant importance both immediately after birth, such as congenital adrenal hyperplasia and certain malformation syndromes that may present potential risk to child’s life, and in the long term, such as unresolved sex definition that may cause irreversible psychosocial effects for patients and their families [1, 2]. Two years later Sax questioned this estimative arguing that the author had included patients without genital ambiguity, such as those with Turner and Klinefelter syndromes and the nonclassical form of congenital adrenal hyperplasia and suggested that the incidence of DSD with genital ambiguity would be 0.0018% [5]. Some authors have questioned this classification and proposed a different classification based on type of gonadal tissue [6,7,8,9]

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