Anomalías de la esteroidogénesis suprarrenal en niños chilenos con micropene

Background: Mutations in type II 3ß hydroxysteroid Dehydrogenase (3ßHSD) 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 3ßHSD activity. Aim: To assess the frequency of...

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Autores principales:	Sapunar Z,Jorge, Vidal P,Teresa, Bauer V,Karin
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2003
Materias:	Cytochrome p-450 CYPc21 Oxido reductases Steroids Virilism
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872003000100007
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spelling	oai:scielo:S0034-988720030001000072003-05-13Anomalías de la esteroidogénesis suprarrenal en niños chilenos con micropeneSapunar Z,JorgeVidal P,TeresaBauer V,Karin Cytochrome p-450 CYPc21 Oxido reductases Steroids Virilism Background: Mutations in type II 3ß hydroxysteroid Dehydrogenase (3ßHSD) 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 3ßHSD 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 0.25 mg/m2 intramuscular ACTH. Results: Two children had DHEA y DHEA/A values suggesting a defective 3ßHSD 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 3ßHSD activity (Rev Méd Chile 2003; 131: 46-54)info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.131 n.1 20032003-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872003000100007es10.4067/S0034-98872003000100007
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Cytochrome p-450 CYPc21 Oxido reductases Steroids Virilism
spellingShingle	Cytochrome p-450 CYPc21 Oxido reductases Steroids Virilism Sapunar Z,Jorge Vidal P,Teresa Bauer V,Karin Anomalías de la esteroidogénesis suprarrenal en niños chilenos con micropene
description	Background: Mutations in type II 3ß hydroxysteroid Dehydrogenase (3ßHSD) 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 3ßHSD 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 0.25 mg/m2 intramuscular ACTH. Results: Two children had DHEA y DHEA/A values suggesting a defective 3ßHSD 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 3ßHSD activity (Rev Méd Chile 2003; 131: 46-54)
author	Sapunar Z,Jorge Vidal P,Teresa Bauer V,Karin
author_facet	Sapunar Z,Jorge Vidal P,Teresa Bauer V,Karin
author_sort	Sapunar Z,Jorge
title	Anomalías de la esteroidogénesis suprarrenal en niños chilenos con micropene
title_short	Anomalías de la esteroidogénesis suprarrenal en niños chilenos con micropene
title_full	Anomalías de la esteroidogénesis suprarrenal en niños chilenos con micropene
title_fullStr	Anomalías de la esteroidogénesis suprarrenal en niños chilenos con micropene
title_full_unstemmed	Anomalías de la esteroidogénesis suprarrenal en niños chilenos con micropene
title_sort	anomalías de la esteroidogénesis suprarrenal en niños chilenos con micropene
publisher	Sociedad Médica de Santiago
publishDate	2003
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872003000100007
work_keys_str_mv	AT sapunarzjorge anomaliasdelaesteroidogenesissuprarrenalenninoschilenosconmicropene AT vidalpteresa anomaliasdelaesteroidogenesissuprarrenalenninoschilenosconmicropene AT bauervkarin anomaliasdelaesteroidogenesissuprarrenalenninoschilenosconmicropene
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Anomalías de la esteroidogénesis suprarrenal en niños chilenos con micropene

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