Document Detail

17-Hydroxyprogesterone deficiency as a cause of sexual infantilism and arterial hypertension: laboratory and molecular diagnosis--a case report.
MedLine Citation:
PMID:  17454159     Owner:  NLM     Status:  MEDLINE    
The differential diagnosis of hypertension associated with hypokalemia in infancy and adolescence should necessarily include deficiency of the 17alpha-hydroxylase enzyme, a rare form of congenital adrenal hyperplasia (CAH). In addition to hypertension, the classic syndrome caused by this deficiency is characterized by suppressed production of sex hormones and consequently sexual infantilism. Although rare (1% of all forms of CAH), there appears to be a higher incidence of this syndrome in some population groups. This is a case report on two sisters followed up at the Department of Obstetrics and Gynecology, School of Medicine, Universidade Estadual de Campinas (UNICAMP), who were both found to have the 46,XY genotype with homozygosis for W406R, exon 7 of the CYP17 gene (OMIM 202110). The condition was diagnosed only at puberty when hypergonadotropic hypogonadism resulted in sexual infantilism; however, arterial hypertension had been present since infancy and late diagnosis and lack of timely adequate treatment resulted in complications.
Cristina Laguna Benetti-Pinto; Diama Vale; Heraldo Garmes; Aloísio Bedone
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology     Volume:  23     ISSN:  0951-3590     ISO Abbreviation:  Gynecol. Endocrinol.     Publication Date:  2007 Feb 
Date Detail:
Created Date:  2007-04-24     Completed Date:  2007-06-07     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8807913     Medline TA:  Gynecol Endocrinol     Country:  England    
Other Details:
Languages:  eng     Pagination:  94-8     Citation Subset:  IM    
Department of Obstetrics and Gynecology, School of Medicine, Universidade Estadual de Campinas (UNICAMP), Rua Alexander Fleming 101, CEP 13083-881 Campinas, São Paulo, Brazil.
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MeSH Terms
17-alpha-Hydroxyprogesterone / blood*
Adrenal Hyperplasia, Congenital / enzymology,  etiology*
Amenorrhea / etiology
Deficiency Diseases / complications,  genetics
Sexual Infantilism / etiology*
Steroid 17-alpha-Hydroxylase / genetics*
Reg. No./Substance:
68-96-2/17-alpha-Hydroxyprogesterone; EC 17-alpha-Hydroxylase

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