ESPE2016 Free Communications Neuroendocrinology (6 abstracts)
Inactivating Mutations in CCDC141 Causing Idiopathic Hypogonadotrophic Hypogonadism/Kallmann Syndrome
Ihsan Turan a , B. Ian Hutchins b , Bulent Hacıhamdioglu c , Mehmet Nuri Ozbek d , Leman Damla Kotan a , Yusuf Ozkan e , Hudson Stoner b , Paul J. Cheng b , Fatih Gurbuz a , Eda Mengen a , Bilgin Yuksel a , Susan Wray b & Kemal Topaloglu a
aCukurova University, Division of Pediatric Endocrinology, Adana, Turkey; bCellular and Developmental Neurobiology Section, National Institute of Neurological Disorders and Stroke, Bethesda, USA; cDepartment of Pediatric Endocrinology, GATA Medical Faculty, Istanbul, Turkey; dDepartment of Pediatric Endocrinology, Diyarbakir Children’s State Hospital, Diyarbakir, Turkey; eDepartment of Endocrinology, Firat University, Elazig, Turkey
Background: GnRH neurons originate outside the CNS in the olfactory placode and migrate into the central nervous system, becoming integral components of the hypothalamic-pituitary–gonadal axis (HPG).
Objective and hypotheses: We hypothesize that gene(s), whose products are important for pubertal development can be identified via autozygosity mapping together with whole exome sequencing in patients with idiopathic hypogonadotrophic hypogonadism (IHH)/Kallmann Syndrome (KS).
Method: We studied a cohort IHH/KS cases.
Results: Our studies revealed three independent families in which IHH/KS is associated with inactivating CCDC141 variants.
Conclusion: These results indicate that CCDC141 is required for successful migration of GnRH neurons to their final destination in the hypothalamus, and thus establishment of the central part of HPG axis.
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