From Severe Virilization to Precocious Puberty in a 46,XX Patient: Therapeutic Challenges in a Case of 11β-Hydroxylase Deficiency.

11β-hydroxylase deficiency (11β-OHD) is an autosomal recessive genetic disorder caused by mutations in the CYP11B1 gene. It most commonly presents with virilization of the external genitalia in both sexes. A delayed diagnosis can be observed in 46,XX patients with severe virilization of the external genitalia who are raised as boys. This report presents the case of a child from a consanguineous marriage who presented at the age of seven with premature pubarche. The diagnosis of congenital adrenal hyperplasia (CAH) due to 11β-OHD was made based on virilization of the external genitalia (Prader stage 5) in a female child (46,XX) raised as a boy, associated with precocious pseudopuberty, and a very high level of 11-deoxycorticosterone. Imaging revealed female-type internal genital organs. The multidisciplinary team recommended feminization surgery; however, this was declined by the parents, and they were subsequently lost to follow-up. At the age of 11, the child presented with true precocious puberty, characterized by breast development (Tanner stage 4) and a pubertal uterus on pelvic ultrasound, accompanied by severe statural and weight delay. A re-evaluation of the therapeutic approach was conducted in consultation with the parents, who subsequently consented to a masculinization procedure to preserve the child's raised sex. Late diagnosis of CAH poses significant management challenges. This observation highlights the importance of early screening at birth and during medical consultations, as well as the importance of appropriate management to prevent complications related to sex assignment, growth, and fertility and to improve the psychosocial quality of life of the patient and their parents.