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hrp0082fc5.3 | Neuroendocrinology | ESPE2014

Loss of Function Mutations in pnpla6 Cause Hypogonadotropic Hypogonadism due to Impaired LH Release from Pituitary Gonadotropes

Topaloglu Ali Kemal , Lomniczi Alejandro , Kretzschmar Doris , Dissen Gregory A , Damla Kotan Leman , McArdle Craig A , Koc A. Filiz , Hamel Ben C , Guclu Metin , Papatya Esra D , Eren Erdal , Mengen Eda , Gurbuz Fatih , Cook Mandy , Castellano Juan M , Kekil M. Burcu , Mungan Neslihan O , Yuksel Bilgin , Ojeda Sergio R

Background: Gordon Holmes syndrome (GHS) is characterized by cerebellar ataxia/atrophy and normosmic hypogonadotropic hypogonadism (nHH). The underlying pathophysiology of this combined neurodegeneration and nHH remains unknown.Patients and methods: We studied a cohort of multiplex families with GHS through autozygosity mapping and whole exome sequencing.Results: We identified patients from three independent families carrying loss-...

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ESPE Abstracts

Loss of Function Mutations in pnpla6 Cause Hypogonadotropic Hypogonadism due to Impaired LH Release from Pituitary Gonadotropes

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