hrp0084p3-1160 | Puberty | ESPE2015

Central Precocious Puberty Presented due to Late Started Treatment for Familial Testotoxicosis

Kor Yilmaz , Durmaz Erdem , Bulus Derya , Ceylaner Serdar

Background: Peripheral precocious puberty (GnRH independed): precocious development of secondary sexual characteristics may also be caused by mechanisms that do not involve activation of pulsatile GnRH secretion. Familial male-limited precocious puberty, also known testotoxicosis is a rare dominant form of gonadotropin independent precocity caused by constitutively activating mutations of the human LH choriogonadotropin receptor (LHCGR). If do not treat with appropriate drugs ...

hrp0082p2-d2-577 | Sex Development (1) | ESPE2014

A Novel Cyp19a1 Gene Mutation Identified in Three Turkish Families

Akcurin Sema , Durmaz Erdem , Kim Woo-Young , Turkkahraman Doga , Shin Joe-Gook , Lee Su-Jun

The CYP19A1 gene product cP450aromatase enzyme is responsible for estrogen synthesis and androgen/estrogen equilibrium in many tissues; placenta and gonads are being the leading tissues. cP450aromatase deficiency has important effects on clinical phenotype due to excessive amount of androgen accumulation and insufficient estrogen synthesis in the pre- and postnatal periods. We identified a new point mutation in the CYP19A1 gene causing aromatase deficiency in three Turkish fam...

hrp0082p3-d2-860 | Growth (3) | ESPE2014

Clinical Expression of Familial Williams–Beuren Syndrome in a Turkish Family

Parlak Mesut , Nur Banu Guzel , Mihci Ercan , Durmaz Erdem , Karauzum Sibel Berker , Akcurin Sema , Bircan Iffet

Background: WBS is a rare genetic disorder characterized by distinctive facial features, intellectual disability, cardiovascular anomalies, and infantile hypercalcemia.Objective and hypotheses: Majority of WBS cases occur sporadically, only five families with clinically confirmed WBS have been identified by molecular cytogenetic analysis. Here, we report on the three molecular cytogenetically confirmed familial WBS detected in a family with familial shor...

hrp0084p3-1151 | Puberty | ESPE2015

Urinary Bisphenol A and Its Relation with Kisspeptin in Girls with Idiopathic Central Puberty Precocious and Premature Telarche

Ozgen Ilker Tolga , Torun Emel , Bayraktar-Tanyeri Bilge , Durmaz Erdem , Cesur Yasar

Background: Endocrine disruptors cause harmful effects to human body through various exposure routes. These chemicals mainly appear to interfere with the endocrine or hormone systems. Bisphenol A (BPA) is known as an endocrine disruptor with an estrogenic effect and it is supposed that it may have a role on development of precocious puberty (PP). Kisspeptin, a hypothalamic peptide, is a neuromodulator of GnRH and it has a big role on regulation of the onset of puberty.<p c...

hrp0084p2-239 | Bone | ESPE2015

Novel CYP27B1 Gene Mutations in Children with Vitamin D-Dependent Rickets Type 1A

Demir Korcan , Kattan Walaa E , Zou Minjing , Durmaz Erdem , BinEssa Huda , Nalbantoglu Ozlem , Al-Rijjal Roua A , Meyer Brian , Ozkan Behzat , Shi Yufei

Background: The CYP27B1 gene encodes 25-hydroxyvitamin D-1α-hydroxylase. Mutations of this gene cause a rare autosomal recessive disorder, vitamin D-dependent rickets type 1A.Objective and hypotheses: To investigate CYP27B1 mutations in children when rickets was associated with normal or high vitamin D levels and low or inappropriately normal calcitriol levels.Method: All coding exons and intron-exon boundari...

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...