Document Detail

Follow-up study of two sisters with type A syndrome of severe insulin resistance gives a new insight into PCOS pathogenesis in relation to puberty and pregnancy outcome: a case report.
MedLine Citation:
PMID:  16410336     Owner:  NLM     Status:  MEDLINE    
We report two sisters with profound insulin resistance associated with a novel heterozygous missense mutation in exon 19 (His1130Arg) of the insulin receptor gene. The eldest was seen after puberty at age 15 and she presented a severe form of polycystic ovary syndrome (PCOS) with biological hyperandrogenism (HA) mimicking a virilizing tumour. However, she has been able to ovulate under clomiphene citrate (CC) and to achieve two uneventful pregnancies. The patient had no glucose tolerance abnormality during pregnancies. The outcome of pregnancy was good except for a low birthweight. The youngest sister was seen earlier in life (at age 11) before puberty. First, she developed polycystic ovaries (PCO), seen under ultrasound scan, and later also developed full PCOS. This second finding gave us the opportunity to observe that PCO developed before and at the beginning of puberty despite low LH levels. We postulate that the development of PCO was the consequence of an LH-independent intra-ovarian HA likely induced by the severe hyperinsulinism in the context of genetic abnormalities.
A Vambergue; C Lautier; A S Valat; C Cortet-Rudelli; F Grigorescu; D Dewailly
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2006-01-12
Journal Detail:
Title:  Human reproduction (Oxford, England)     Volume:  21     ISSN:  0268-1161     ISO Abbreviation:  Hum. Reprod.     Publication Date:  2006 May 
Date Detail:
Created Date:  2006-04-13     Completed Date:  2006-07-03     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  8701199     Medline TA:  Hum Reprod     Country:  England    
Other Details:
Languages:  eng     Pagination:  1274-8     Citation Subset:  IM    
Department of Endocrinology and Diabetology, Clinique Marc Linquette, Hospitalier Régional Universitaire, Lille, France.
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MeSH Terms
Clomiphene / administration & dosage
Exons / genetics
Fertility Agents, Female / administration & dosage
Hyperandrogenism / complications*,  genetics,  metabolism
Insulin / metabolism
Insulin Resistance / genetics*
Live Birth
Luteinizing Hormone / metabolism*
Mutation, Missense
Ovulation / drug effects
Polycystic Ovary Syndrome / etiology*,  genetics,  metabolism
Puberty / genetics,  metabolism*
Receptor, Insulin / genetics*
Reg. No./Substance:
0/Fertility Agents, Female; 11061-68-0/Insulin; 9002-67-9/Luteinizing Hormone; 911-45-5/Clomiphene; EC, Insulin

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