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An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1RGPR54 in a Large Family
Joint Authors
Alzahrani, Ahmad J.
Ahmad, Azzam
Alhazmi, Tariq
Ahmad, Lujin
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-10-16
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
KISS1R (GPR54) mutations have been reported in several patients with congenital normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
We aim to describe in detail nIHH patients with KISS1R (GPR54) mutations belonging to one related extended family and to review the literature.
A homozygous mutation (T305C) leading to a leucine substitution with proline (L102P) was found in three affected kindred (2 males and 1 female) from a consanguineous Saudi Arabian family.
This residue is localized within the first exoloop of the receptor, affects a highly conserved amino acid, perturbs the conformation of the transmembrane segment, and impairs its function.
In the affected female, a combined gonadotropin administration restored regular period and ovulation and she conceived with a healthy baby boy after 4 years of marriage.
We showed that a loss-of-function mutation (p.Tyr305C) in the KISS1R gene can cause (L102P) KISS1 receptor dysfunction and familial nIHH, revealing the crucial role of this amino acid in KISS1R function.
The observed restoration of periods and later on pregnancy by an exogenous gonadotropin administration further support, in humans, that the KISS1R mutation has no other harmful effects on the patients apart from the gonadotropin secretion impairment.
American Psychological Association (APA)
Alzahrani, Ahmad J.& Ahmad, Azzam& Alhazmi, Tariq& Ahmad, Lujin. 2019. An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1RGPR54 in a Large Family. Case Reports in Pediatrics،Vol. 2019, no. 2019, pp.1-6.
https://search.emarefa.net/detail/BIM-1143680
Modern Language Association (MLA)
Alzahrani, Ahmad J.…[et al.]. An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1RGPR54 in a Large Family. Case Reports in Pediatrics No. 2019 (2019), pp.1-6.
https://search.emarefa.net/detail/BIM-1143680
American Medical Association (AMA)
Alzahrani, Ahmad J.& Ahmad, Azzam& Alhazmi, Tariq& Ahmad, Lujin. An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1RGPR54 in a Large Family. Case Reports in Pediatrics. 2019. Vol. 2019, no. 2019, pp.1-6.
https://search.emarefa.net/detail/BIM-1143680
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1143680