• PMID: 3501279
• Gene Name: CYP11B1
• Condition: Bilateral cryptorchidism, congenital adrenal hyperplasia
• Association: The patient had a younger brother also presenting with 11-beta-hydroxylase deficiency but with bilateral cryptorchidism. This suggests that ACTH hypersecretion alone is unlikely to be responsible for testicularenlargement.
• Population size: 1
• Population details: 1 congenital adrenal hyperplasia
• Age: 5.5 yrs
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Bilateral cryptorchidism, congenital adrenal hyperplasia

[Bilateral testicular hypertrophy and congenital adrenal hyperplasia caused by 11-beta-hydroxylase deficiency]

Khaldi F, Bennaceur B, Hamza M, Boudina T, Jafoura H, Hamza B.

This study reports the case of a 5 1/2 year-old boy with congenital adrenal hyperplasia (11-beta-hydroxylase deficiency) and bilateral testicular hypertrophy. Microscopic and ultrastructural examinations did not show any nodular tumor or crystalloids or Reinke. However, interstitial cell hyperplasia was present which may have resulted in testicular enlargement. The patient had a younger brother also presenting with 11-beta-hydroxylase deficiency but with bilateral cryptorchidism. This suggests that ACTH hypersecretion alone is unlikely to be responsible for testicular enlargement. FAU - Khaldi, F AU - Khaldi F AD - Service de Pédiatrie Générale, Hôpital d'Enfants, Bab Sâadoun, Tunis. FAU - Bennaceur, B AU - Bennaceur B FAU - Hamza, M AU - Hamza M FAU - Boudina, T AU - Boudina T FAU - Jafoura, H AU - Jafoura H