An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1RGPR54 in a Large Family
المؤلفون المشاركون
Alzahrani, Ahmad J.
Ahmad, Azzam
Alhazmi, Tariq
Ahmad, Lujin
المصدر
العدد
المجلد 2019، العدد 2019 (31 ديسمبر/كانون الأول 2019)، ص ص. 1-6، 6ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2019-10-16
دولة النشر
مصر
عدد الصفحات
6
التخصصات الرئيسية
الملخص 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.
نمط استشهاد جمعية علماء النفس الأمريكية (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
نمط استشهاد الجمعية الأمريكية للغات الحديثة (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
نمط استشهاد الجمعية الطبية الأمريكية (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
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1143680
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر