作者
Daiane Beneduzzi, Ericka B Trarbach, Le Min, Alexander AL Jorge, Heraldo M Garmes, Alessandra Covallero Renk, Marta Fichna, Piotr Fichna, Karina A Arantes, Elaine MF Costa, Anna Zhang, Oluwaseun Adeola, Junping Wen, Rona S Carroll, Berenice B Mendonça, Ursula B Kaiser, Ana Claudia Latronico, Letícia FG Silveira
发表日期
2014/9/1
期刊
Fertility and sterility
卷号
102
期号
3
页码范围
838-846. e2
出版商
Elsevier
简介
Objective
To analyze the GNRHR in patients with normosmic isolated hypogonadotropic hypogonadism (IHH) and constitutional delay of growth and puberty (CDGP).
Design
Molecular analysis and in vitro experiments correlated with phenotype.
Setting
Academic medical center.
Patient(s)
A total of 110 individuals with normosmic IHH (74 male patients) and 50 with CDGP.
Intervention(s)
GNRHR coding region was amplified and sequenced.
Main Outcome Measure(s)
Novel variants were submitted to in vitro analysis. Frequency of mutations and genotype-phenotype correlation were analyzed. Microsatellite markers flanking GNRHR were examined in patients carrying the same mutation to investigate a possible founder effect.
Result(s)
Eleven IHH patients (10%) carried biallelic GNRHR mutations. In vitro analysis of novel variants (p.Y283H and p.V134G) demonstrated complete inactivation. The founder effect study …
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D Beneduzzi, EB Trarbach, L Min, AAL Jorge… - Fertility and sterility, 2014