[Abnormalities of adrenal steroidogenesis in Chilean boys with micropenis].
BACKGROUND
Mutations in type II 3 beta hydroxysteroid Dehydrogenase (3 beta 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 beta HSD activity.


OBJECTIVE
To assess the frequency of abnormal adrenal response to ACTH, suggesting a deficit in adrenal enzymatic activity, in children with mild undervirilization.


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 0.25 mg/m2 intramuscular ACTH.


RESULTS
Two children had DHEA y DHEA/A values suggesting a defective 3 beta 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 beta HSD activity.
Sapunar
Jorge
J
Unidad de Endocrinología, Departamento de Medicina Interna, Facultad de Medicina, Universidad de La Frontera, Temuco, Chile. medinter@ufro.cl
Vidal
Teresa
T
Bauer
Karin
K
D015096:3-Hydroxysteroid Dehydrogenases / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D000311:Adrenal Glands / Q000201:enzymology*; D000324:Adrenocorticotropic Hormone / Q000494:pharmacology*; D000736:Androstenes / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D002677:Chile; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010413:Penis / Q000002:abnormalities*; D011374:Progesterone / Q000378:metabolism; D013255:Steroid 21-Hydroxylase / Q000235:genetics / Q000378:metabolism; D013256:Steroids / Q000378:metabolism*
D000736:Androstenes; D013256:Steroids; D011374:Progesterone; D000324:Adrenocorticotropic Hormone; D015096:3-Hydroxysteroid Dehydrogenases; D013255:Steroid 21-Hydroxylase