hrp0082p3-d2-968 | Sex Development (1) | ESPE2014

The Novel Mutation in the Steroidogenic Acute Regulatory Protein in 46,XY Case with Adrenal Insufficiency and Complete Sex Reversal

Gurbuz Fatih , Damla Kotan L , Mengen Eda , Topaloglu Ali Kemal , Yuksel Bilgin

Background: The steroidogenic acute regulatory protein (StAR) has been shown to be essential for steroidogenesis by mediating cholesterol transfer into mitochondria. Inactivating StAR mutations cause the typical clinical picture of congenital lipoid adrenal hyperplasia.Objective and hypotheses: We aimed to identify causative mutations in cases presenting with adrenal failure during early infancy.Method: Consecutive cases with adren...

hrp0084p3-621 | Adrenals | ESPE2015

A Case of X-Linked Adrenal Hypoplasia Congenita – Adrenal Hypoplasia Congenita, Glycerol Kinase Deficiency and Duchenne Muscular Dystrophy

Yuksel Bilgin , Mengen Eda , Seker Gul Cirkin , Gurbuz Fatih , Topaloglu Ali Kemal

Introduction: X-linked adrenal hypoplasia congenita (AHC) is caused by mutations of the NR0B1 gene encoding DAX1 on chromosome Xp21. AHC also occurs as part of a contiguous gene deletion syndrome together with Duchenne muscular dystrophy, glycerol kinase deficiency (GKD), mental retardation, or a combination of these conditions. Here, we report a male 5 years old with AHC who presented with adrenal insufficiency, GKD, and duchenne muscular dystrophy due to a mutation in the DA...

hrp0084p3-707 | Diabetes | ESPE2015

A Novel Genetic Mutation in a Turkish Family with GCK-MODY

Ucakturk S Ahmet , Gunindi Figen , Demirel Fatma , Elmaogullari Selin , Mengen Eda , Yuksel Bilgin

Background: Maturity-onset diabetes of the young type 2 (MODY2) is an autosomal dominant inherited disease caused by heterozygous inactivating mutations in the glucokinase (GCK) gene. It mostly presents with mild fasting hyperglycaemia. MODY2 accounts for 2%–5% of all diabetes cases. It is treated with diet only, and complications are extremely rare. We presented here a family with MODY2 caused by a novel heterozygous p.E51*(c.151.G>T) mutation of the GCK gene.<p ...

hrp0082p1-d2-158 | Growth (1) | ESPE2014

Effects of Methylphenidate on Growth and Appetite in Attention-Deficit Hyperactivity Patients

Gurbuz Fatih , Gurbuz Berrak Bilginer , Celik Gonca , Yildirim Veli , Ucakturk Ahmet , Mengen Eda , Topaloglu Ali Kemal , Yuksel Bilgin

Background: Attention-deficit hyperactivity disorder (ADHD) is one of the most common psychiatric problems of adolescent and childhood. Methylphenidate is a psychostimulant drug in use of attention-deficit hyperactivity treatment as a first choice modality.Objective and hypotheses: The aim of this study is to evaluate the levels of leptin, ghrelin and nesfatin-1 in relation to slowdown in growth and poor appetite.Method: Total of 8...

hrp0092rfc8.5 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

CHD7 Mutations in Patients with Anosmic or Normosmic Idiopathic Hypogonadotropic Hypogonadism

Damla Kotan Leman , Anik Ahmet , Mengen Eda , Turan Ihsan , Akkus Gamze , Ozsu Elif , Bereket Abdullah , Nuri Ozbek Mehmet , Yuksel Bilgin , Kemal Topaloglu Ali

Background: Mutations in CHD7 cause a rare multi-organ system disorder, CHARGE syndrome (CS). Genital hypoplasia has been described in 60-80% of reported cases because of idiopathic hypogonadotropic hypogonadism (IHH), which is a result of inadequate GnRH secretion in the hypothalamus. Correspondingly, IHH and anosmia are expected in cases with CHD7 mutation. However, due to the phenotypic spectrum of CHD7, mutations have also be...

hrp0084p2-410 | GH &amp; IGF | ESPE2015

Response to GH Treatment in the Very Young with GH Deficiency

Cetinkaya Semra , Poyrazoglu Sukran , Aycan Zehra , Siklar Zeynep , Berberoglu Merih , Atay Zeynep , Bereket Abdullah , Ercan Oya , Mengen Eda , Demirel Fatma , Darcan Sukran , Darendeliler Feyza

Aim: Data on response to GH treatment in the very young children with GH deficiency is scarce. The aim of this study was to evaluate the growth response in such children in a national multicentre study and to analyse the factors affecting the growth response.Materials and methods: In this study, we retrospectively evaluated the files of GH deficiency patients who had started GH treatment between 0–3 years of age who were being followed in 14 differe...

hrp0086fc12.3 | Neuroendocrinology | ESPE2016

Inactivating Mutations in CCDC141 Causing Idiopathic Hypogonadotrophic Hypogonadism/Kallmann Syndrome

Turan Ihsan , Hutchins B. Ian , Hacıhamdioglu Bulent , Ozbek Mehmet Nuri , Kotan Leman Damla , Ozkan Yusuf , Stoner Hudson , Cheng Paul J. , Gurbuz Fatih , Mengen Eda , Yuksel Bilgin , Wray Susan , Topaloglu Kemal

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)/...

hrp0086fc12.4 | Neuroendocrinology | ESPE2016

Idiopathic Hypogonadotrophic Hypogonadism Caused by Inactivating Mutations in SRA1

Kotan Leman Damla , Cooper Charlton , Darcan Sukran , Carr Ian , Ozen Samim , Yan Yi , Hamedani Mohammad K. , Gurbuz Fatih , Mengen Eda , Turan Ihsan , Ulubay Ayca , Akkus Gamze , Yuksel Bilgin , Leygue Etienne , Topaloglu Kemal

Background: What initiates pubertal process in humans and other mammals has remained elusive.Objective and hypotheses: We hypothesize that gene(s), whose products trigger the GnRH pulse generator to restart ticking at the usual time of puberty, can be identified via autozygosity mapping together with whole exome sequencing in patients with idiopathic hypogonadotrophic hypogonadism (IHH).Method: We studied a cohort IHH cases. Functi...

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-...

hrp0084p2-541 | Puberty | ESPE2015

Distribution of Mutations in Genes Known to be Associated with Familial Idiopathic Hypogonadotropic Hypogonadism in a Large Cohort

Kotan L. Damla , Mengen Eda , Gurbuz Fatih , Ozsu Elif , Tunc Selma , Kor Yilmaz , Cakir Esra P. , Abaci Ayhan , Demir Korcan , Akcay Teoman , Kirel Birgul , Kinik Sibel T. , Ozen Samim , Ucakturk Ahmet , Bideci Aysun , Durmaz Erdem , Unluhizarci Kursad , Turan Ihsan , Yuksel Bilgin , Topaloglu A. Kemal

Background: Idiopathic hypogonadotropic hypogonadism (IHH) is characterised by failure of initiation or maintenance of puberty due to insufficient gonadotropin release, which is not associated with anosmia/hyposmia.Objective and hypotheses: The objective of this study was to determine the distribution of causative mutations in an hereditary form of IHH.Method: In this prospective collaborative study, families with more than one aff...