Medico-surgical treatment of 46, XY disorders of sex development due to 17-hydroxylation deficiency

Objective To evaluate the diagnosis and medico-surgical treatment of male pseudohermaphroditism due to 17-hydroxylation deficiency. Methods Retrospective analyses were conducted for the clinical data of 10 cases of male pseudohermaphroditism due to 17-hydroxylation deficiency from September 2006 to December 2013.Glucocorticoid (GC) replacement therapy was offered.Gender selection and subsequent surgery were based upon patient condition, age, social gender and parental desires. Results After 1-month GC treatment, the levels of potassium and blood pressure were normal.Two patients received calcium channel blockers.Progesterone and adrenocorticotropic hormone decreased and cortisol and 24-h urinary free cortisol rose (P 0.05). All patients were transformed into girls.One case was lost to follow-up while the others continued taking GC with proper controls of plasma potassium and blood pressure.Two cases of vaginoplasty received estrogen therapy after puberty.Breast development occurred and the outcomes of artificial vagina molding were satisfactory.Two patients had disciplinary sexual life.Vaginal health score and Rosen's female sexual function index were normal. Conclusions As a rare type of congenital adrenal hyperplasia, 17-hydroxylation deficiency causes male pseudohermaphroditism.Surgery plus lifelong GC therapy may yield an excellent prognosis. Key words: Congenital adrenal cortical hyperplasia; Disorders of sex development; 17α-hydroxylase deficiency