Case report of a homozygous Kisspeptin 1 receptor (KISS1R) mutation causing hypogonadotropic hypogonadism in an Irish family

被引：0
|
作者：
Kennedy, A. [1 ]
Awang, M. H. [1 ]
Tuthill, A. [1 ]
机构：
[1] Cork Univ Hosp, Dept Endocrinol & Diabet, Cork, Ireland
来源：
IRISH JOURNAL OF MEDICAL SCIENCE | 2019年 / 188卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
P72
引用
收藏
页码：S232 / S232
页数：1
相关论文
共 50 条
  • [21] Placental protein expression of kisspeptin-1 (KISS1) and the kisspeptin-1 receptor (KISS1R) in pregnancy complicated by diabetes mellitus or preeclampsia
    R. V. Kapustin
    A. O. Drobintseva
    E. N. Alekseenkova
    A. R. Onopriychuk
    O. N. Arzhanova
    V. O. Polyakova
    I. M. Kvetnoy
    Archives of Gynecology and Obstetrics, 2020, 301 : 437 - 445
  • [22] Placental protein expression of kisspeptin-1 (KISS1) and the kisspeptin-1 receptor (KISS1R) in pregnancy complicated by diabetes mellitus or preeclampsia
    Kapustin, R. V.
    Drobintseva, A. O.
    Alekseenkova, E. N.
    Onopriychuk, A. R.
    Arzhanova, O. N.
    Polyakova, V. O.
    Kvetnoy, I. M.
    ARCHIVES OF GYNECOLOGY AND OBSTETRICS, 2020, 301 (02) : 437 - 445
  • [23] Physiological and pathological roles of locally expressed kisspeptin and KISS1R in the endometrium
    Zhang, Jieyu
    Jin, Lei
    Kong, Lingnan
    Nie, Li
    Yuan, Dongzhi
    HUMAN REPRODUCTION, 2023, 38 (07) : 1253 - 1260
  • [24] Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families
    Demirbilek, Huseyin
    Ozbek, M. Nuri
    Demir, Korcan
    Kotan, L. Damla
    Cesur, Yasar
    Dogan, Murat
    Temiz, Fatih
    Mengen, Eda
    Gurbuz, Fatih
    Yuksel, Bilgin
    Topaloglu, A. Kemal
    CLINICAL ENDOCRINOLOGY, 2015, 82 (03) : 429 - 438
  • [25] Presence and function of kisspeptin/KISS1R system in swine ovarian follicles
    Basini, G.
    Grasselli, F.
    Bussolati, S.
    Ciccimarra, R.
    Maranesi, M.
    Bufalari, A.
    Parillo, F.
    Zerani, M.
    THERIOGENOLOGY, 2018, 115 : 1 - 8
  • [26] The role of Kisspeptin, KISS1 and KISS1R genes in primary female infertility: a case-control study of a Nigerian population
    Okafor, Izuchukwu A.
    Saanu, Oluseun O.
    Olayemi, Oladapo
    Omibodun, Akinyinka
    FASEB JOURNAL, 2022, 36
  • [27] A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia
    Breuer, Oded
    Abdulhadi-Atwan, Maha
    Zeligson, Sharon
    Fridman, Hila
    Renbaum, Paul
    Levy-Lahad, Ephrat
    Zangen, David H.
    EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2012, 167 (02) : 209 - 216
  • [28] Functional characterization of a new homozygous mutation of kisspeptin receptor in a familial case of congenital hypogonadotrophic hypogonadism
    Brioude, F.
    Bouligand, J.
    Brailly-Tabrd, S.
    Lombes, M.
    Young, J.
    Guiochon-Mantel, A.
    FUNDAMENTAL & CLINICAL PHARMACOLOGY, 2010, 24 : 4 - 4
  • [29] Kisspeptin/KISS1R Signaling Modulates Human Airway Smooth Muscle Cell Migration
    Balraj, Premanand
    Ambhore, Nilesh Sudhakar
    Ramakrishnan, Yogaraj S.
    Borkar, Niyati A.
    Banerjee, Priyanka
    Reza, Mohammad Irshad
    Varadharajan, Subashini
    Kumar, Ashish
    Pabelick, Christina M.
    Prakash, Y. S.
    Sathish, Venkatachalem
    AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY, 2024, 70 (06) : 507 - 518
  • [30] The evaluation of ovarian function in normosmic idiopathic hypogonadotropic hypogonadism with a fibroblast growth factor receptor 1 mutation: a case report
    Wang, Lulu
    Lai, Dongmei
    GYNECOLOGICAL ENDOCRINOLOGY, 2022, 38 (04) : 350 - 353
12345