Similarities and differences in the reproductive phenotypes of women with congenital hypogonadotrophic hypogonadism caused byGNRHRmutations and women with polycystic ovary syndrome

Author:

Maione Luigi1234,Fèvre Anne5,Nettore Immacolata Cristina4,Manilall Ashmeetha6,Francou Bruno13,Trabado Séverine137,Bouligand Jérôme137,Guiochon-Mantel Anne137,Delemer Brigitte5,Flanagan Colleen A6,Macchia Paolo Emidio4,Millar Robert P8,Young Jacques127

Affiliation:

1. University of Paris-Sud and University Paris-Saclay, Le Kremlin-Bicêtre, France

2. Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Department of Reproductive Endocrinology, Le Kremlin-Bicêtre, France

3. Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Department of Molecular Genetics, Pharmacogenomics, and Hormonology, Le Kremlin-Bicêtre, France

4. Department of Clinical Medicine and Surgery and Endocrinology, Federico II University, Naples, Italy

5. Department of Endocrinology, Hôpital Robert-Debré, Reims, France

6. Faculty of Health Sciences, School of Physiology, University of the Witwatersrand, Johannesburg, South Africa

7. Institut National pour la Santé et la Recherche Médicale U1185, Paris-Sud Medical School, Le Kremlin-Bicêtre, France

8. Departments of Immunology and Physiology, Faculty of Health Sciences, Centre for Neuroendocrinology, University of Pretoria, Pretoria 0084, South Africa and Institute for Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, South Africa

Funder

National Research Agency

Italian Ministry of Education, University and Research 89

Publisher

Oxford University Press (OUP)

Subject

Obstetrics and Gynaecology,Rehabilitation,Reproductive Medicine

Reference46 articles.

1. Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism;Abel;J Clin Endocrinol Metab,2013

2. Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay;Beneduzzi;Fertil Steril,2014

3. Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism;Beranova;J Clin Endocrinol Metab,2001

4. Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment;Boehm;Nat Rev Endocrinol,2015

5. Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation;Bouligand;N Engl J Med,2009

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