A rare case report about a congenital adrenal hyperplasia by 21-hydroxylase lock in its pure virilizing form discovered in adolescence.

ABSTRACT

Introduction: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive disease. The diagnosis of the classic virilizing form must be made at birth. Case presentation We report the case of a 16-year-old female patient, who consulted for primary amenorrhea and absence of breast development, in whom the clinical examination found a male morphotype, signs of virilization with a peniform hypertrophy of the clitoris. Pelvic ultrasound confirmed the presence of the uterus and ovaries. A syacthen test on 17 hydroxy-progesterone was performed confirming the diagnosis of congenital adrenal hyperplasia by partial 21-hydroxylase deficiency. The treatment was based on hydrocortisone and spironolactone with a decrease in hairiness and a breast development after 3 months. Discussion: The principal aim of the management at adolescent age is to block hyperandrogenism and to prevent or manage the complications of classic form and its treatment. The treatment must be completed by a feminization surgery which constitutes a great challenge given the necessity of participation of a gynecologist and a pediatric surgeon experienced in the surgery of anomalies of sexual development. Conclusion: This rare case of anomaly of sexual development discovered at an adolescent age with all the obstacles and difficulties of its management allows to put the point on the necessity of a good clinical examination at birth and the early management of any anomaly of sexual development.