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ea0090p152 | Pituitary and Neuroendocrinology | ECE2023

Protein tyrosine phosphatase receptors N and N2 regulate gonadotropin-releasing hormone neuron function

Sokanovic Srdjan , Constantin Stephanie , Lamarca Dams Aloa , Mochimaru Yuta , Smiljanic Kosara , Bjelobaba Ivana , Maso Previde Rafael , Stojilkovic Stanko

Simultaneous knockout of the neuroendocrine marker genes Ptprn and Ptprn2, which encode the protein tyrosine phosphatase receptors N and N2, respectively, causes infertility of female mice while males are fertile. To clarify the mechanism of sex-specific roles of Ptprn and Ptprn2 in mice reproduction, we analyzed the effects of their double knockout (DKO) on the hypothalamic-pituitary-gonadal axis. In DKO females, a delay in puberty and lack...

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ea0037s11.1 | Hot topics and IESP symposia | ECE2015

X-linked acro-gigantism (X-LAG): a new form of infant-onset pituitary gigantism

Trivellin Giampaolo , Daly Adrian F. , Faucz Fabio R. , Yuan Bo , Rostomyan Liliya , Larco Darwin O. , Bjelobaba Ivana , Leal Leticia F. , Schernthaner-Reiter Marie Helene , Dimopoulos Aggeliki , Chittiboina Prashant , Choong Catherine S. , Kamenicky Peter , Wu T. John , Costanzi Stefano , Feldman Benjamin , Stojilkovic Stanko S. , Lupski James R. , Beckers Albert , Stratakis Constantine A.

Introduction: Pituitary gigantism is a rare disorder caused by GH-secreting lesions.Aim: We studied gigantism for genetic defects.Methods: We performed genome-wide analyses in 46 patients with gigantism and 248 patients with acromegaly.Results: We detected a novel microduplication at chromosome Xq26.3 in two unrelated kindreds and 13 sporadic cases de novo. All patients had disease onset before five ...

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Endocrine Abstracts

Protein tyrosine phosphatase receptors N and N2 regulate gonadotropin-releasing hormone neuron function

X-linked acro-gigantism (X-LAG): a new form of infant-onset pituitary gigantism

BiosciAbstracts