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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A comparative phenotypic study of Kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes
Journal of Clinical Endocrinology and Metabolism, Volume 95, No. 2, Year 2010
Notification
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Description
Context: Both biallelic and monoallelic mutations in PROK2 or PROKR2 have been found in Kallmann syndrome (KS). Objective: The objective of the study was to compare the phenotypes of KS patients harboring monoallelic and biallelic mutations in these genes. Design and Patients: We studied clinical and endocrine features that reflect the functioning of the pituitary-gonadal axis, and the nonreproductive phenotype, in 55 adult KS patients (42 men and 13 women), of whom 41 had monoallelic mutations and 14 biallelic mutations in PROK2 or PROKR2. Results: Biallelic mutations were associated with more frequent cryptorchidism (70% vs. 34%, P < 0.05) and microphallus (90% vs. 28%, P < 0.001) and lower mean testicular volume (1.2 ± 0.4 vs. 4.5 ± 6.0 ml; P<0.01) in male patients. Likewise, the testosterone level as well as the basal FSH level and peak LH level under GnRH-stimulation were lower in males with biallelic mutations (0.2 ± 0.1 vs. 0.7±0.8 ng/ml; P=0.05, 0.3±0.1 vs. 1.8±3.0 IU/liter; P<0.05, and 0.8±0.8 vs. 5.2±5.5 IU/liter; P<0.05, respectively). Nonreproductive, nonolfactory anomalies were rare in both sexes and were never found in patients with biallelic mutations. The mean body mass index of the patients (23.9± 4.2 kg/m2 in males and 26.3±6.6 kg/m2 in females) did not differ significantly from that of gender-, age-, and treatment-matched KS individuals who did not carry a mutation in PROK2 or PROKR2. Finally, circadian cortisol levels evaluated in five patients, including one with biallelic PROKR2 mutations, were normal in all cases. Conclusion: Male patients carrying biallelic mutations in PROK2 or PROKR2 have a less variable and on average a more severe reproductive phenotype than patients carrying monoallelic mutations in these genes. Nonreproductive, nonolfactory clinical anomalies associated with KS seem to be restricted to patients with monoallelic mutations. Copyright © 2010 by The Endocrine Society.
Authors & Co-Authors
Sarfati, Julie
France, Paris
Institut Cochin
Guiochon-Mantel, Anne
France, Paris
Inserm
Rondard, Philippe
France, Montpellier
Université de Montpellier
Arnulf, Isabelle
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Garcia-Piñero, Alfons
Poland, Bialystok
Servei Orl
Wołczyński, Sławomir
Unknown Affiliation
Brailly-Tabard, Sylvie
France, Paris
Inserm
Bidet, Maud
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Ramos-Arroyo, María Antonia
Spain, Pamplona
Hospital de Navarra
Mathieu-Dramard, Michèle
France, Amiens
Chu Amiens Picardie
Lienhardt-Roussie, Anne
France, Limoges
Chu de Limoges
Morgan, Graeme
Australia, Sydney
Sydney Ivf
Turki, Zinet Marrakchi
Tunisia, Tunis
Institut National de Nutrition & Technologie Alimentaire
Bremont, Catherine
France, Paris
Hopital Cochin Ap-hp
Lespinasse, James
France, Chambery
Centre Hospitalier Chambéry
Du Boullay, Helene
France, Chambery
Centre Hospitalier Chambéry
Chabbert-Buffet, Nathalie
France, Paris
Hôpital Tenon
Jacquemont, S.
Switzerland, Lausanne
Centre Hospitalier Universitaire Vaudois
Reach, Gérard
France, Bobigny
Hopital Avicenne
De Talence, Nicole
France
Centre Hospitalier, France
Tonella, Paolo
Switzerland, Bern
University Hospital Bern
Conrad, Bernard
Switzerland, Bern
University Hospital Bern
Despert, Francois
France, Tours
Centre Hospitalier Regional et Universitaire de Tours
Delobel, Bruno
France, Lille
Chu Lille
Brue, Thierry C.
France, Marseille
Ap-hm Assistance Publique - Hôpitaux de Marseille
Bouvattier, Claire
France, Paris
Hopital Saint-vincent-de-paul
Cabrol, Sylvie
France, Paris
Hôpital Armand-trousseau
Pugeat, Michel
France, Lyon
Chu de Lyon
Murat, Arnaud
France, Nantes
Chu de Nantes
Bouchard, Philippe
France, Paris
Hôpital Saint-antoine
Hardelin, Jean Pierre
France, Paris
Inserm
Dodé, Catheriné
France, Paris
Institut Cochin
France, Paris
Hopital Cochin Ap-hp
Young, Jacques M.
France, Paris
Inserm
France, Le Kremlin-bicetre
Hopital de Bicetre
Statistics
Citations: 131
Authors: 33
Affiliations: 26
Identifiers
Doi:
10.1210/jc.2009-0843
ISSN:
0021972X
e-ISSN:
0021972X
Research Areas
Cancer
Sexual And Reproductive Health
Participants Gender
Male
Female