hrp0089p3-p336 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

A Turkish Family with 46,XY Disorder of Sex Development Due to 17b-Hydroxysteroid Dehydrogenase Type 3 Deficiency

Gurbuz Fatih , Turan Ihsan , Tastan Mehmet , Yuksel Bilgin

17β-Hydroxysteroid dehydrogenase type 3 (17β-HSD3) is expressed mostly in the testes and converts the inactive Δ4-androstenedione (A) to testosterone (T). 17β-HSD3 deficiency is a rare autosomal recessive disorder and the most common testosterone biosynthesis defect leading to 46,XY Disorders of Sex Development (DSD). To date, more than 40 mutations of HSD17B3 have been reported. 46,XY patients with 17β-HSD3 deficiency would present with wide variable ...

hrp0095lb10 | Late Breaking | ESPE2022

Novel CUL3 Variant in Pseudohypoaldosteronism Type 2

Turan Ihsan , Damla Kotan Leman , Atmis Bahriye , Karabay Bayazit Aysun , Yuksel Bilgin

Introduction: Pseudohypoaldosteronism type II (PHA II) is an extremely rare disorder characterized by low plasma renin and aldosterone when a normal renal function with hypertension, hyperkalemia, and hyperchloremic metabolic acidosis. PHA II is also known as familial hyperkalemic hypertension or Gordon’s syndrome and is an inherited autosomal dominant. PHA II could be caused by pathogenic variants of WNK1, WNK4, KLHL3, and <em...

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...

hrp0092rfc15.2 | Late Breaking Abstracts | ESPE2019

BMP4 Mutations as a Novel Cause of Normosmic Hypogonadotropic Hypogonadism

Topaloglu A. Kemal , Yildirim Ruken , Damla Kotan Leman , Akkus Gamze , Unal Edip , Turan Ihsan , Dilek Semine , Tastan Mehmet , Gurbuz Fatih , Yuksel Bilgin

BMP4, a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily, is involved in the embryonic development of various organ and tissues including the cranio-facial structures, olfactory placode, pituitary, eyes, heart, and kidneys. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. BMP4 plays an important role in the embryonic development of the GnRH neurons ...

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...

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...

hrp0095rfc11.6 | Late Breaking | ESPE2022

Genotype, phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type IA (VDDR1a): A nationwide multicentre retrospective cross-sectional study

Cayir Atilla , Demirbilek Huseyin , Turkyılmaz Ayberk , Turan Serap , Bereket Abdullah , Darendeliler Feyza , Nuri Özbek Mehmet , Ünal Edip , Okdemir Deniz , Esen Ihsan , Eren Erdal , Yıldırım Ruken , Çetinkaya Semra , Cansu Sahin Kadriye , Anık Ahmet , Sena Dönmez Ayşe , Pınar Öztürk Ayşe , Bayramoğlu Elvan , Buyukinan Muammer , Gurbuz Fatih , Demir Korcan , Kılınç Suna , Betul Kaygusuz Sare , Çelmeli Gamze , Selvi Eklioglu Beray , Acar Sezer , Dursun Fatma , Turan Ihsan , Özkaya Beyhan , Kurnaz Erdal , Taner Baran Rıza , Özkan Behzat

Background: Vitamin D Dependent Rickets Type IA(VDDR1a) is an autosomal recessive disorder characterized by defects in the biosynthesis of its active form 1,25 dihydroxyvitamin D due to the mutations in the CYP27B1 gene encoding for the enzyme 1α-hydroxylase.Objective and hypotheses: To evaluatethe clinical characteristics, molecular genetics aetiology and long-term outcome of a large nationwide cohort of VDDR-Ia f...