|
|
| |
| Enzymatic Block in 11-beta Hydroxylase and Pregnancy, A proposed case |
W. BOUCHKARA, M. SELLAK, S. JAYI, FZ. FDILI ALAOUI. H. CHAARA, M.A. MELHOUF
|
Abstract:
: The adrenal enzymatic blocks or congenital adrenal hyperplasia (HCS) are defined by a deficit of one of the enzymes, resulting, depending on the enzyme involved, a lack of synthesis of one or certain hormones and sometimes an excess of synthesis of others. It is an autosomal recessive genetic pathology. It is due in the majority of cases to a deficiency in 21 hydroxylase and more rarely, ie 5 to 8% of cases, to a deficiency in 11-b-hydroxylase. We report the case of a pregnancy occurring 2 years after the discovery of an enzymatic block of 11 beta hydroxylase in a 35-year-old primigravidae under treatment with hydrocortisone. The classic form of 11-hydroxylase deficiency is revealed in the neonatal period by virilization in girls. This virilization ranges from clitoral hypertrophy to an appearance of male-type external genitalia with fused striated and pigmented labia majora with scrotal appearance, without a palpable gonad, and a penile-like clitoris with a urethral orifice located on the ventral or apical face of this bud. Girls have normal internal genitalia. These patients develop arterial hypertension in two thirds of the cases in the first years of life. This deficit is also manifested by precocious pubic hair, acne, an acceleration in the rate of growth and bone maturation, the latter leading to an early fusion of the mating cartilages and therefore a small final size. Laboratory diagnosis is based on elevation of compound S and baseline DOC or after stimulation with ACTH. The level of adrenal androgens is high (D4 and testosterone). The prognosis is improved by antenatal diagnosis based on trophoblast biopsy or amniocentesis and genetic testing for the SRY gene. The management is based on maternal treatment with corticosteroids in the case of the female fetus.
|
|
|
| | |