Linked Life Data

17033937

Source:http://linkedlifedata.com/resource/pubmed/id/17033937

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9-10
pubmed:dateCreated
2006-12-7
pubmed:abstractText
We describe here two infertile male patients who were referred to our hospital with azoospermia at the ages of 33 and 30 years, respectively. Hormonal examinations led to a diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency in both patients. Genotyping revealed that the patients had a homozygous I172N and a heterozygous compound I172N/IVS2-13A/C>G mutation, respectively. Glucocorticoid replacement therapy succeeded in improving the seminal status of one patient, but not the other. For the latter patient and his wife, a pregnancy was achieved by testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI) following genetic counseling. It is important to investigate genotyping and to classify patients on the basis of genotypic information in order to arrive at better treatment strategies for male infertility; especially in counseling of TESE-ICSI.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1058-0468
pubmed:author
pubmed:issnType
Print
pubmed:volume
23
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
377-80
pubmed:dateRevised
2008-3-18
pubmed:meshHeading
pubmed:articleTitle
Genotyping of congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as male infertility: case report and literature review.
pubmed:affiliation
Department of Urology, Kyoto University, Graduate School of Medicine, 54 Shogoin Kawahara-cho, Sakyo-ku, Kyoto, 606-8507, Japan.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't