Endocrine Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders that result from the deficiency of one of several enzymes involved in the steroidogenic pathway for cortisol biosynthesis. The most common cause of CAH, accounting for 90% of cases, is 21-hydroxylase deficiency. The symptoms of disease very depending on the nature and severity of the enzyme deficiency as well as the sex of the individual. Non-classical CAH is generally late onset. Ho...

Background: Azoospermia is present at approximately 1% of the man. karyotype can show number and structure abnormalities of the sexe chromosomes.Case: 16 years old boy,who was refered to the departement of endocrinology for a failure to growth since 8 years old. This patient was resulting from a marriage between blood relations. He had a congenital bilateral hip luxation diagnosed since birth but untreated.He had a gait disorder with a low weight 32 kg &...