The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty

Kirsi Vaaralahti; Karoliina Wehkalampi; Johanna Tommiska; Eeva-Maria Laitinen; Leo Dunkel; Taneli Raivio

doi:10.1016/j.fertnstert.2010.12.059

The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty

Fertil Steril. 2011 Jun 30;95(8):2756-8. doi: 10.1016/j.fertnstert.2010.12.059. Epub 2011 Feb 3.

Authors

Kirsi Vaaralahti¹, Karoliina Wehkalampi, Johanna Tommiska, Eeva-Maria Laitinen, Leo Dunkel, Taneli Raivio

Affiliation

¹ Institute of Biomedicine, Department of Physiology, University of Helsinki, Helsinki, Finland.

PMID: 21292259
DOI: 10.1016/j.fertnstert.2010.12.059

Abstract

Variation in FGFR1, GNRHR, TAC3, and TACR3 was evaluated in 146 Finnish subjects with constitutional delay of growth and puberty. Although one male subject carried a previously undescribed heterozygous deletion (Phe309del) in GNRHR, which segregated with delayed puberty in his family, mutations in the coding regions of FGFR1, GNRHR, TAC3, and TACR3 are not likely to underlie common constitutional delay of growth and puberty.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Case-Control Studies
DNA Mutational Analysis
Female
Finland
Genetic Predisposition to Disease
Growth Disorders / genetics*
Growth Disorders / physiopathology
Humans
Hypogonadism / genetics*
Hypogonadism / physiopathology
Male
Mutation*
Neurokinin B / genetics
Pedigree
Phenotype
Puberty, Delayed / genetics*
Receptor, Fibroblast Growth Factor, Type 1 / genetics
Receptors, LHRH / genetics
Receptors, Neurokinin-3 / genetics
Risk Assessment
Risk Factors

Substances

GNRHR protein, human
Receptors, LHRH
Receptors, Neurokinin-3
Neurokinin B
FGFR1 protein, human
Receptor, Fibroblast Growth Factor, Type 1