ESPE Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by an inherited defect in cortisol biosynthesis, 90-99% of CAH cases occur due to 21-hydroxylase deficiency, while 11β-hydroxylase deficiency (11βOHD) accounts for only 0.2-8% of cases. In this study, we report a case of congenital adrenal hyperplasia due to 11βOHD in a two-year-old boy who presented with pseudo precocious puberty and tall stature.

Case Presentation: A 2-year-old boy was referred with gigantism: Height (100 cm) was at + 4DS, with pseudo-precocious puberty; Pubic hair (Prader stage 2) developed at the age of 12 months, bone age was advanced :7 years. The parents were first cousins. Hormonal Assays are shown in the following table:

Genetic testing, confirmed the diagnosis of autosomal recessive CAH due to 11βOHD as a result of a homozygous pathogenic mutation, p.(G379V), in the CYP11B1 gene. The patient was initially treated with hydrocortisone, then he presented a true precocious puberty with advanced BA and Height prediction 162 cm, treated by LHRH analogs and growth hormone

Discussion and conclusion: The worldwide incidence of CAH due to 11βOHD is approximately 1 : 100,000 live births in the general population, with high incidence in North Africa 1 :5000-7000 live births, 58% are a consequence of consanguineous marriages. Although it’s more easily recognizable in females, Males with classic 11BOH D typically present at 2-4 years with features of androgen excess, including increased growth velocity, advanced bone age, pubic hair, increased penile length, and aggressive behavior, with tall stature but a compromised adult height. Hypertension is seen in approximately two thirds of patients. The diagnosis is made by measuring 11-deoxycortisol levels. Abdominal computed tomography (CT) scanning may be useful for evaluating the adrenal glands, excluding mass lesions, and diagnosing adrenal hyperplasia.