Endocrine Abstracts

Disorders of sexual development are defined as any congenital condition, in which the development of the chromosomal, gonadal, or anatomical sex is atypical. Congenital adrenal hyperplasia is one of the most common etiology of those disorders, whiwh may be responsible for acute adrenal insufficiency in the neonatal period. The objectives of this case report are to underline the interest of the diagnosis and the genetic counseling for this pathology characterized by an autosomal recessive transmission. It is a child aged of 3 months at the time of diagnosis, the last of a sibling of nine children, with a history of four deaths in the siblings, and who presented at the age of 2 months with an acute adrenal insufficiency syndrome, revealing congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clinical examination revealed a sexual ambiguity (hypospadias and cryptorchidism). The rest of the clinical examination did not find any dysmorphism or other associated abnormalities. The inguino-scrotal ultrasound revealed a pelvic structure in the shape of a uterus and the absence of testicles. The karyotype on two different samples confirmed the female chromosomal sex of the child, with a normal formula of 46.XX. Genetic counseling with molecular study are planned. Disorders of sexual development are the result of anomalies that have arisen during the sex differentiation of the individual. The diagnosis of these abnormalities requires in particular cytogenetic and molecular analyses. Prenatal diagnosis is performed in high-risk pregnancies and prenatal treatment with dexamethasone seems effective in preventing genital anomalies in affected female fetus.