scholarly journals Efficacy and safety of pulsatile gonadotropin-releasing hormone therapy in patients with congenital hypogonadotropic hypogonadism: a multicentre clinical study

2021 ◽  
Vol 0 (0) ◽  
pp. 0-0
Author(s):  
Ming Hao ◽  
Jiang-Feng Mao ◽  
Qing-Bo Guan ◽  
Long Tian ◽  
Hu Han ◽  
...  
Keyword(s):  
Clinical Study ◽  
Hormone Therapy ◽  
Hypogonadotropic Hypogonadism ◽  
Gonadotropin Releasing Hormone ◽  
Efficacy And Safety ◽  
Releasing Hormone ◽  
Congenital Hypogonadotropic Hypogonadism

Homozygous p.R31H GNRH1 mutation and normosmic congenital hypogonadotropic hypogonadism in a patient and self-limited delayed puberty in his relatives

2020 ◽  
Vol 33 (9) ◽  
pp. 1237-1240
Author(s):  
Cécile Brachet ◽  
Caroline Gernay ◽  
Emese Boros ◽  
Julie Soblet ◽  
Catheline Vilain ◽  
...  
Keyword(s):  
Index Case ◽  
Hypogonadotropic Hypogonadism ◽  
Rare Condition ◽  
Gonadotropin Releasing Hormone ◽  
Delayed Puberty ◽  
Case Presentation ◽  
Releasing Hormone ◽  
Congenital Hypogonadotropic Hypogonadism ◽  
The One

AbstractObjectivesCongenital hypogonadotropic hypogonadism (CHH) is a rare condition resulting from GnRH deficiency. Gonadotropin Releasing Hormone 1 (GNRH1) homozygous mutations are an extremely rare cause of normosmic CHH (nCHH). Most heterozygous individuals are asymptomatic, with the notable exception of individuals heterozygous for a p.R31C GNRH1 mutation.Case presentationThe patient is an index case from a consanguineous family, presenting with severe CHH and his parents presenting with late puberty and normal fertility. The index case is homozygous for a p.R31H GNRH1 variant, both parents being heterozygous. The analysis of a panel of genes implicated in CHH does not show any other clinically relevant variant in any other gene tested.ConclusionsGNRH1 mutations are a rare cause of nCHH. Five different mutations have been reported so far in homozygous individuals. Most are frameshift in nature but the one reported here causes an amino acid change in the Gonadotropin-releasing hormone (GnRH) decapeptide. Both independently reported patients with the p.R31H mutation are from Turkish origin. The question of the possible role of this mutation in the late puberty of the heterozygous parents needs further documentation. An analogy is made with the heterozygous individuals carrying the p.R31C and displaying partial CHH. No nonreproductive disorder is noted.

186: Neoadjuvant Gonadotropin-Releasing Hormone Therapy Before Orchiopexy Improves the Fertility Index in Concomitant Testicular Biopsies

2004 ◽  
Vol 171 (4S) ◽  
pp. 49-49
Author(s):  
Christian Schwentner ◽  
Andreas Lunacek ◽  
Josef Oswald ◽  
Georg Bartsch ◽  
Alfons Kreczy ◽  
...  
Keyword(s):  
Hormone Therapy ◽  
Gonadotropin Releasing Hormone ◽  
Releasing Hormone ◽  
Fertility Index
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