Esteroidogenesis adrenal

Background: Mutations in type II 3 hydroxysteroid Dehydrogenase (3 HSD) are found in male children with severe undervirilized genitalia. Mild undervirilization (isolated micropenis or with distal hypospadia) can be associated with a partial deficit in 3 HSD activity. Aim: To assess the frequency of abnormal adrenal response to ACTH, suggesting a deficit in adrenal enzymatic activity, in children with mild undervirilization. Patients and methods: We studied 26 male children with micropenis, aged one to eight years. Children with evidences of puberal development or in treatment with drugs that affect steroidal metabolism were excluded from the study. Serum levels of androstenedione (A), dehydroepiandrosterone (DHEA), progesterone (P), 17 hydroxyprogesterone (17 P) and the ratios DHEA/A, P/17 P, 17 P/DHEA were measured after an adrenal stimulation with mg/m2 intramuscular ACTH. Results: Two children had DHEA y DHEA/A values suggesting a defective 3 HSD activity. Other two children had high levels of 17 P, suggesting a deficiency of cytochrome p450c21. A CYP 21 gene mutation was found in one of the later children. Conclusions: A low proportion of children with micropenis have a deficient 3 HSD activity (Rev Méd Chile 2003; 131: 46-54)

congenital adrenal hyperplasia includes a series of genetic diseases of autosomal recessive transmission characterized by a disorder of suprarenal esteroidogenesis. this is a typical case of brain damage by pathologic effect of sexual hormones in developing nervous system, and also, are the secondary sequelae to severe situation of adrenal crises appearing in a classic way in the first days of life. methods: a study-case of a child aged 6 presenting with backgrounds of congenital adrenal hyperplasia and salt-losing syndrome. we determine weak and strong points in develop by means of the luria inicial neuropsychological battery. as a complement to valuation we applied the weschler intelligence scale and the infantile behavior questionnaire for parents and professors. results: child presenting with a neuropsychological profile characterized by low scores in: manual motility, visual-spatial, impulsiveness, a poor language, difficulty in operations of simple calculations, in recognition of objects by touch with visual help, and in processing speed. ability of intelligence is within normal limits with the lower performance in non-verbal scale. in behavior scale, it was possible to identify difficulties to attention and learning. conclusion: neuropsychological profile is characterized by a low level of executions in verbal tasks, non-verbal, and in processing speed. hormonal treatment during first days of life allows that development follows its "normal" course, but all process has a cost reflected in acquisition of higher psychological abilities

Esteroidogenesis adrenal

esteroidogenesis adrenal

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