An unexpected diagnosis in children with male phenotype and bilateral nonpalpable gonad: congenital adrenal hyperplasia with female genotype

Female pseudohermaphroditism is the most frequent form of ambiguous genitalia in children with congenital adrenal hyperplasia (CAH). However, a small group of children with complete urethral development in contrast to 46XX karyotype can be encountered. We aimed to define the characteristics of patients with 46XX CAH but having fully developed male external genitalia.

The records of 11 children with CAH and 46XX karyotype but having male phenotype, encountered from 1990 to 2012 were reviewed retrospectively. The age, presenting signs and symptoms, diagnostic studies, surgical procedures, early results and outcome were noted. All patients were evaluated by gender assignment team and the decision of the family was also taken into consideration during gender assignment.

Eleven children (mean age 3.64 ± 3 years) (range 5 days–10 years) were enrolled. The main presenting signs were nonpalpable gonads (n = 7), hyperpigmentation (n = 2), jaundice (n = 1) and electrolyte imbalance (n = 1). All patients had bilateral nonpalpable gonads and male phenotype with mean phallus length of 4.5 ± 1.7 cm. Urethral meatus is located at normal position (n = 6) or hypospadiac (n = 5). Labioscrotal fusion was complete in all cases and they were classified as 4th (n = 3) or 5th (n = 8) degree of virilization according to Prader’s classification. All children had CAH and 46XX genotype. Pelvic ultrasound (n = 8) and genitocystogram (n = 9) were used, and genitocystoscopy was performed (n = 6). Male gender was assigned in most (n = 10) and female gender in one. Corrective surgery could be performed in 10 patients. The surgical procedures were hysterectomy + bilateral salphingo-oophorectomy + vaginectomy (n = 9), chordee release (n = 3) and then second-stage (n = 2) or one-stage urethra repair (n = 1), and pure one-stage urethra repair (n = 1). One case underwent surrenalectomy before the diagnosis of CAH. Mastectomy (n = 1) and fistula repair (n = 3) were additional operations. Only one child could be undergone feminizing genitoplasty and another was lost to follow-up.

Unfortunately, most of the children underwent surgery in adverse to genotype because of constituted sexual identity. Children with male phenotype and bilateral nonpalpable gonads should undergo promptly biochemical analyses for CAH and early chromosomal analysis.