hrp0082p3-d3-950 | Puberty and Neuroendocrinology (1) | ESPE2014

Leydig Cell Hyperplasia Mimicking Tumor: a Rare Cause of Isosexual Precoccious Puberty

Karabulut Gulcan Seymen , Hatun Sukru , Yuksel Aysegul , Corapcioglu Funda Ozer , Anik Yonca , Ekingen Gulsen , Gurbuz Yesim

Background: A 5 years and 10 months boy presented with pubic hair, recent penile growth, aggressive behaviour and rapid growth of height. Antenatal, perinatal, and developmental history was unremarkable. There was no family history of precocious puberty. His height and weight were 128 cm (2.24 S.D.) and 25 kg (1.55 S.D.) respectively. Vital signs were normal. He was Tanner 2 for pubic hair and his stretched penis length was 11 cm, right testis vol...

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 ...

hrp0086p1-p624 | Growth P1 | ESPE2016

A Novel GH1 Mutation in a Family with Autosomal-Dominant Type II Isolated Growth Hormone Deficiency

Gurbuz Fatih , Elmaogullari Selin , Arasli Aslihan , Demirel Fatma

Background: The familial type of isolated growth hormone deficiency (IGHD) is characterized by a variable degree of growth restriction, low but detectable GH serum concentrations. The recessive type IA and IB, the autosomal-dominant type II, and X-linked recessive type III. Phenotype-genotype correlations are notoriously difficult to be established. Herein, we described the patient who has autosomal-dominant type II IGHD due to a novel GH1 mutation.Objec...

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...

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...

hrp0089p3-p096 | Diabetes & Insulin P3 | ESPE2018

Serum Trace Element Levels in Children Presenting with Diabetic Ketozis and Diabetic Ketoacidosis: A Longitudinal Controlled Study

Doneray Hakan , Gurbuz Kadri , Ozden Ayse , Gul Mehmet Ali , Orbak Zerrin

Objective: There have been very few studies, with contradictory results, on the serum trace elements in children and adolescents presenting with diabetic ketosis and diabetic ketoacidosis due to type-1 diabetes mellitus. The objective of this longitudinal controlled study was to determine serum trace element status including selenium (Se), zinc (Zn), copper (Cu), manganese (Mn), chrome (Cr), and cobalt (Co) in type-1 diabetic children and adolescents presenting with diabetic k...

hrp0086p2-p60 | Adrenal P2 | ESPE2016

A Case of Cushing’s Syndrome Due to Adrenocortical Adenoma with Pubarche and Obesity

Gurbuz Fatih , Cayir Atilla , Karakus Esra , Demir Rabia , Demirel Fatma , Senel Emrah

Background: Adrenocortical tumors in childhood represent very rare about 0.2% of all pediatric malignancies. Cushing’s syndrome (CS) is characterized by clinical features caused by autonomous excessive glucocorticoid production from adrenal cortex. In ACTH-independent CS, the most common cause is unilateral cortisol-producing adrenocortical adenoma.Objective and hypotheses: Fifteen months old girl was admitted with gradually gain weight, pubarche, a...

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...