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The child of uncertain sex: 17 years of experience
Author(s) -
AlAgha AE,
Thomsett MJ,
Batch JA
Publication year - 2001
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1046/j.1440-1754.2001.00669.x
Subject(s) - medicine , congenital adrenal hyperplasia , hypospadias , pediatrics , ambiguous genitalia , disorders of sex development , phallus (fungus) , gonadal dysgenesis , sex organ , gynecology , genitourinary system , karyotype , medical record , medical diagnosis , general surgery , surgery , pathology , chromosome , male genitalia , zoology , biochemistry , chemistry , genetics , gene , biology
Objective : To review the common clinical presentations, investigations and final diagnosis of children presenting with genital ambiguity. Methodology : Retrospective search of the Royal Children’s Hospital, Brisbane, Australia, medical records and personal medical database of one of the authors (MJT) between 1982 and 1999. Results : Fifty‐one children aged 0.1–;14 (mean 3.9) years were identified. Twenty‐two cases had a 46XX karyotype, and commonly presented with an enlarged phallus (77.2%), urogenital sinus (63.6%) and labioscrotal fold(s) (40.9%). Congenital adrenal hyperplasia (CAH) was the most common final diagnosis (72.7%) . Twenty‐nine cases of genital ambiguity had a 46XY karyotype and commonly presented with palpable gonad(s) (75.8%), undescended testes (51.7%), penoscrotal hypospadias (51.7%) and a small phallus (41.3%). Androgen insensitivity and gonadal dysgenesis were the commonest final diagnosis both occurring at a frequency of 17.2%. Conclusions : The results emphasize the importance of CAH as the most common diagnosis in 46XX cases presenting with ambiguous genitalia. Those with 46XY had a wider range of diagnoses. Despite thorough investigation, 23.5% had no definite final diagnosis made.