Endocrine Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase (11β-OHD) deficiency is, in order of frequency, the second most common form after 21 hydroxylase deficiency. We report the cases of patients with 11β-OHD followed in our department.

Patient 1: The patient was referred to our department at the age of 13. The history of the disease dates back to the age of 3, when the child presented pubic and axillary hair and a large penis. Examination revealed a 5-cm penis and empty bursae. The child also presented with hypertension and hypokalemia. Pelvic ultrasound revealed female internal genitalia and the karyotype was 46XX. The genetic study confirmed the diagnosis. The child was raised as a boy. At the age of puberty, he underwent two surgical procedures, one for bilateral breast hypertrophy and the second to correct a communication between the vagina and urethra. Genetic investigation revealed two healthy homozygous sisters and one heterozygous sister for the p.G379V mutation of CYP11B1.

Patient 2: Patient aged 16 years (karyotype 46, XY) was diagnosed with 11β-OHD at the age of 2. The patient had a staturoponderal and pubertal advance at the onset. His clinical presentation was characterized by resistant and unstable hypertension. He was hospitalized thrice for hypertensive emergencies. Due to his hypertension, he developed dilated hypokinetic cardiomyopathy, grade 3 hypertensive retinopathy, and hypertensive nephropathy.

Patient 3: The patient was referred to our department at the age of 16 years. She came from a consanguineous marriage, followed for an 11 B-OHD since the age of 17 months with a 46-XX karyotype. The diagnosis was established during the exploration of sexual ambiguity with genitography showing a 20 mm long vaginal cavity ending in the vertical portion of the urethra which was of the male type with major hypospadia. Pelvic ultrasound revealed female internal genitalia. The patient underwent clitoral anastomosis resection and vaginoplasty. At the age of 5, hypertension was diagnosed and at the age of 14, she developed hirsutism with elevated testosterone level of 3.66 ng/ml despite treatment with hydrocortisone. Moderate adrenal hyperplasia was diagnosed on CT scan, leading to left adrenalectomy. Histological findings confirmed diffuse nodular hyperplasia. The postoperative testosterone control was 1.16 ng/ml.

Conclusion: We presented patients diagnosed with classic 11β-OHD with different clinical presentations. This particular disorder is relatively understudied. Our results highlight the need for further research to improve our understanding of the relationship between specific genetic features, clinical presentation and long-term course of this disorder.