Discordance in the Dependence on Kisspeptin Signaling in Mini Puberty vs Adolescent Puberty: Human Genetic Evidence | Zendy

Muhammad Shahab | Zendy; Margaret Lippincott | Zendy; Yee-Ming Chan | Zendy; Addie Davies | Zendy; Paulina M. Merino | Zendy; Lacey Plummer | Zendy; Verónica Mericq | Zendy; Stephanie B. Seminara | Zendy

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Discordance in the Dependence on Kisspeptin Signaling in Mini Puberty vs Adolescent Puberty: Human Genetic Evidence

Author(s) -

Muhammad Shahab,

Margaret Lippincott,

Yee-Ming Chan,

Addie Davies,

Paulina M. Merino,

Lacey Plummer,

Verónica Mericq,

Stephanie B. Seminara

Publication year - 2018

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2017-02636

Subject(s) - kisspeptin , hypogonadotropic hypogonadism , endocrinology , medicine , delayed puberty , hypothalamic–pituitary–gonadal axis , precocious puberty , luteinizing hormone , missense mutation , gonadotropin releasing hormone , kallmann syndrome , biology , testosterone (patch) , hypothalamic disease , hormone , phenotype , disease , genetics , gene , covid-19 , infectious disease (medical specialty)

Hypothalamic kisspeptin signaling plays a critical role in the initiation and maintenance of reproductive function. Biallelic mutations in the coding sequence of KISS1R (GPR54) have been identified in patients with idiopathic hypogonadotropic hypogonadism, but it is unknown whether biallelic variants can also be associated with related reproductive disorders.

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