An Unusual Presentation of 11β-Hydroxylase Deficiency: Gynecomastia with Precocious Puberty and Hypertension in a Child

Abstract

Background: Congenital adrenal hyperplasia due to 11\beta-hydroxylase deficiency is a rare autosomal recessive disorder caused by mutations in the CYP11B1 gene, leading to impaired cortisol synthesis. This results in excess adrenocorticotropic hormone (ACTH) stimulation, adrenal hyperplasia, and overproduction of adrenal androgens. Accumulation of 11-deoxycorticosterone (DOC), a potent mineralocorticoid, leads to hypertension and hypokalemia. It accounts for a small proportion of Congenital Adrenal Hyperplasia cases and may present with features of virilization and early puberty.
Case Presentation: A 6-year-old male child presented with bilateral breast enlargement and premature development of pubic hair for 2 months. There was no history of exposure to exogenous hormones or similar complaints in the family. On examination, the child had height >97th percentile for age with features of precocious puberty (Tanner stage II). Blood pressure was elevated for age. No genital ambiguity or testicular enlargement was noted.
Laboratory evaluation revealed low serum cortisol with elevated adrenal androgens. Further hormonal analysis showed markedly increased 11-deoxycortisol levels with suppressed plasma renin activity, suggestive of mineralocorticoid excess. Serum electrolytes showed hypokalemia . Bone age was advanced compared to chronological age.
Based on clinical features of precocious puberty with hypertension and supportive biochemical findings, a diagnosis of 11\beta-hydroxylase deficiency was made. The child was initiated on hydrocortisone therapy with advice for regular follow-up and blood pressure monitoring.
Conclusion: This case highlights an atypical presentation of 11\beta-hydroxylase deficiency with gynecomastia and precocious puberty. The presence of hypertension alongside androgen excess is a key diagnostic clue. Early recognition and treatment with glucocorticoid therapy are essential to prevent complications such as persistent hypertension, early epiphyseal closure, and compromised adult height.