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Hum. Reprod. Advance Access originally published online on January 12, 2006
Human Reproduction 2006 21(5):1274-1278; doi:10.1093/humrep/dei455
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

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

A. Vambergue1,5, C. Lautier2, A.S. Valat3, C. Cortet-Rudelli1, F. Grigorescu2 and D. Dewailly4

1 Department of Endocrinology and Diabetology, Clinique Marc Linquette, Hospitalier Régional Universitaire, Lille, 2 Molecular Endocrinology Laboratory University Institute of Clinical Research, Faculty of Medicine, Montpellier, 3 Gynecology Obstetrics Hôpital Jeanne de Flandre, Centre Hospitalier Régional Universitaire, Lille, France and 4 Department of Endocrine Gynaecology and Reproductive Medicine, Centre Hospitalier Régional Universitaire, Lille, France

5 To whom correspondence should be addressed at: Department of Endocrinology and Diabetology, Clinique Marc Linquette, 6 rue du Pr Laguesse, CHRU, 59037 Lille, France. E-mail: a-vambergue{at}chru-lille.fr

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.

Key words: insulin resistance/PCOS/pregnancy/puberty


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