open access

Vol 64, No 4 (2013)
Original papers
Published online: 2013-09-04
Submitted: 2013-09-04
Accepted: 2013-09-04
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Multiplex ligation dependent probe amplification analysis of KAL1, GNRH1, GNRHR, PROK2 and PROKR2 in male patients with idiopathic hypogonadotropic hypogonadism

Yalcin Basaran, Erol Bolu, Hilmi Umut Unal, Rahsan Ilikci Sagkan, Abdullah Taslipinar, Taner Ozgurtas, Ugur Musabak
DOI: 10.5603/EP.2013.0007
·
Endokrynologia Polska 2013;64(4):285-292.

open access

Vol 64, No 4 (2013)
Original papers
Published online: 2013-09-04
Submitted: 2013-09-04
Accepted: 2013-09-04

Abstract

Introduction: The purpose of this study was to determine the prevalence of KAL1, GNRH1, GNRHR, PROK2, and PROKR2 copy numbervariations in patients with idiopathic hypogonadotropic hypogonadism (IHH).

Material and methods: 86 hypogonadal males (76 diagnosed with normosmic idiopathic hypogonadotropic hypogonadism [nIHH] andten with Kallmann syndrome [KS]) and 95 healthy control individuals were studied for the presence of aforementioned genomic rearrangements,using multiplex ligation dependent probe amplification (MLPA).

Results: We detected that of the 86 patients, three with KS had a deletion of the KAL1 gene in exon 9, one of whom also carried a duplicationin exon 11; and three with nIHH had a duplication of the PROK2 gene in exon 3; a deletion of the GNRHR gene in exon 1; anda duplication of the same gene in exon 2, respectively. No abnormalities were found in the patient group for the PROKR2 and GNRH1genes. In addition, no genomic rearrangements were identified in the healthy control individuals for the described genes.

Conclusions: Defining the genetic basis of disease is essential to improve our understanding of this complex disorder, and could be usefulfor genetic counselling and for directing therapy. In addition, discovering the association between genetic mutations and disease isimportant for our better understanding of normal reproductive functions.

Abstract

Introduction: The purpose of this study was to determine the prevalence of KAL1, GNRH1, GNRHR, PROK2, and PROKR2 copy numbervariations in patients with idiopathic hypogonadotropic hypogonadism (IHH).

Material and methods: 86 hypogonadal males (76 diagnosed with normosmic idiopathic hypogonadotropic hypogonadism [nIHH] andten with Kallmann syndrome [KS]) and 95 healthy control individuals were studied for the presence of aforementioned genomic rearrangements,using multiplex ligation dependent probe amplification (MLPA).

Results: We detected that of the 86 patients, three with KS had a deletion of the KAL1 gene in exon 9, one of whom also carried a duplicationin exon 11; and three with nIHH had a duplication of the PROK2 gene in exon 3; a deletion of the GNRHR gene in exon 1; anda duplication of the same gene in exon 2, respectively. No abnormalities were found in the patient group for the PROKR2 and GNRH1genes. In addition, no genomic rearrangements were identified in the healthy control individuals for the described genes.

Conclusions: Defining the genetic basis of disease is essential to improve our understanding of this complex disorder, and could be usefulfor genetic counselling and for directing therapy. In addition, discovering the association between genetic mutations and disease isimportant for our better understanding of normal reproductive functions.

Get Citation

Keywords

hypogonadism, KAL1, GNRH1, GNRHR, PROK2, PROKR2, MLPA

About this article
Title

Multiplex ligation dependent probe amplification analysis of KAL1, GNRH1, GNRHR, PROK2 and PROKR2 in male patients with idiopathic hypogonadotropic hypogonadism

Journal

Endokrynologia Polska

Issue

Vol 64, No 4 (2013)

Pages

285-292

Published online

2013-09-04

DOI

10.5603/EP.2013.0007

Bibliographic record

Endokrynologia Polska 2013;64(4):285-292.

Keywords

hypogonadism
KAL1
GNRH1
GNRHR
PROK2
PROKR2
MLPA

Authors

Yalcin Basaran
Erol Bolu
Hilmi Umut Unal
Rahsan Ilikci Sagkan
Abdullah Taslipinar
Taner Ozgurtas
Ugur Musabak

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