hrp0086p2-p312 | Diabetes P2 | ESPE2016

A Novel Glucokinase Gen Mutation: Mody Type-2 Case

Arasli Yilmaz Aslihan , Elmaogullari Selin , Demirel Fatma , Tayfun Meltem , Ahmet Ucakturk Seyit , Gurbuz Fatih , Kemal Topaloglu Ali

Background: Maturity-Onset Diabetes of the Young (MODY) is a rare monogenic form of diabetes that result in β-cell dysfunction. MODY accounts for 2–5% of all diabetes cases. We presented here a family with MODY2 caused by a novel heterozygous p.L164I (c.490 C>A) mutation of the GCK gene.Case: A 15,5-year-old girl was admitted to our department because of fasting hyperglycemia. She had no polyuria, polydipsia and weight loss...

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...

hrp0092p1-411 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Gender Decision in Disorders of Sex Development (DSD) Patients: 20 Years' Experience

Gürbüz Fatih , Alkan Murat , Celik Gonca , Bisgin Atil , Cekin Necmi , Kemal Topaloglu Ali , Zorludemir Unal , Avci Ayse , Yuksel Bilgin

Gender uncertainty is stressful condition for children and their families. Gender assignment in children with disorder of sex development (DSD) is considered as a medical emergency. Influencing factors to consider when debating gender assignment include medical diagnosis, external genital appearance, potential of fertility and sexual, therapeutic and/or surgical intervention options, views and desires of patients and families, situation of social-cultural factors, the psycholo...

hrp0082p3-d1-961 | Sex Development | ESPE2014

Three Siblings Extremely Androgen Insensitivity Syndrome Due to an AR Mutation with Differing Phenotypes

Yuksel Bilgin , Ucakturk Eda Mengen , Gurbuz Fatih , Topaloglu Ali Kemal

Background: Androgen insensitivity syndrome (AIS) is the most common cause of 46,XY sexual differentiation disorders. Clinical presentation is variable among cases with a range from a complete female to male external genitalia. There is a weak correlation between genotype and phenotype.Aım: Our aim is to report clinical and molecular characteristics of siblings with AIS.Patients and methods: Two siblings newborns with ambiguou...

hrp0086p2-p764 | Pituitary and Neuroendocrinology P2 | ESPE2016

Kallmann Syndrome Due to a Homozygous Missense c.217C>T (p.R73C) Mutation Detected in the Exon-2 of the PROK2 Gene

Ozturk Mehmet Nuri , Demirbilek Huseyin , Kotan Leman Damla , Baysal Birsen , Ocal Murat , Topaloglu Ali Kemal

Background: Kallmann syndrome (KS), the prototype of anosmic idiopathic hypogonadotropic hypogonadism (IHH), is charecterized with HH acompanied by anosmia, absence or hypoplasia of olfactory bulbus due to defective morphogenesis. Mutations in 10 genes have been reported to cause KS while can clarify the underlying molecular defect in about 30–50% of IHH/KS cases. Beside, PROK2 gene mutations are extremely rare cause of KS. Herein, we present KS due to a homozygo...

hrp0082p3-d1-814 | Growth | ESPE2014

A Novel GH1 Functional Mutation in a Family with Isolated GH Deficiency

Yuksel Bilgin , Gurbuz Fatih , Bisgin Atil , Ucakturk Eda Mengen , Topaloglu Ali Kemal

Background: The familial type of isolated GH deficiency (IGHD) is characterized by a variable degree of growth restriction, low but detectable GH serum concentrations. The recessive type 1A and 1B, the autosomal-dominant type 2, and X-linked recessive type 3. Phenotype-genotype correlations are notoriously difficult to be established.Objective and hypotheses: Herein, we described the variable clinical status of a family with a novel GH1 mutation which is...

hrp0082p3-d1-932 | Puberty and Neuroendocrinology | ESPE2014

Idiopathic Hypogonadotropic Hypogonadism due to a GNRH1 Mutation

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

Background: Idiopathic hypogonadotropic hypogonadism may be normosmic (nIHH) or it may be associated with anosmia, which is known as Kallmann syndrome (KS). First mutation GNRH1 was described in 2009 in patients with nIHH. Mutations of the human GNRH1 gene are a very rare cause of nIHH, with only six mutations so far described.Case: The proband is a 11.3-year-old boy who first presented at age 1 with micropenis and cryptorchidism. His p...

hrp0082p3-d1-957 | Sex Development | ESPE2014

5α-Steroid Reductase 2 Deficiency in a Large Family

Ucakturk Eda Mengen , Kor Yilmaz , Gurbuz Fatih , Topaloglu Ali Kemal , Yuksel Bilgin

Background: 5α-Reductase is an enzyme that converts testosterone to dihydrotestosterone (DHT) in peripheral tissues. DHT is responsible for the differentiation of male external genitalia. Mutations in the 5α-steroid reductase type 2 gene (SRD5A2) result in incomplete masculinisation of the external genitalia in subjects with a 46,XY karyotype. The clinical spectrum of a 46,XY individual with 5α-reductase deficiency at birth can range from complete femal...

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...