hrp0084p3-587 | Adrenals | ESPE2015

Adrenal Atrophy Secondary to Inappropriate Oral Administration of Exogenous Steroid Presenting with Hypercalcaemia

Guven Ayla , Kilinc Suna , Helvacioglu Didem , Kuru L ihsan

Background: Glucocorticoids are one of the most widely used drugs in clinical practice. Inappropriate use can result in secondary adrenal insufficiency. Adrenal insufficiency can be an occult cause of hypercalcaemia.Case presentation: A 3-months-old boy admitted for puffiness of the face, increase in weight. It was revealed that the patient was admitted to a hospital 2 months ago and was diagnosed to have congenital cataract and operated. The patient was...

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...

hrp0084p1-1 | Adrenal | ESPE2015

Evaluation of Glucose Metabolism and Cardiovascular Risk Factors and Hyperandrogenemia in Prepubertal Girls with Premature Pubarche

Bezen Digdem , Tutunculer Filiz , Dilek Emine , Seleci Didem Ag , Erbas Hakan

Background: Premature pubarche (PP) is known to be a risk factor the development of metabolic syndrome (MS) and hyperandrogenism.Aims: To evaluate if glucose and insulin metabolism, cardiovascular risk factors and cardiovascular risk factors in family (FCVRF) create a risk for insulin resistance (IR) and if PP is a risk factor alone for MS and hyperandrogenism in normal weighted prepubertal PP girls.Methods: Prepubertal and non-obe...

hrp0094p1-102 | Adrenal B | ESPE2021

Correlation of 11-oxygenated C19 androgens with the clinical and biochemical characteristics in premature adrenarche

Yavas Abali Zehra , Eltan Mehmet , Helvacioglu Didem , Yaman Ali , Turan Serap , Bereket Abdullah , Guran Tulay ,

Background: Premature adrenarche (PA) is defined as the appearance of pubic and/or axillary hair in girls younger than 8 years old and caused by the rise in adrenal androgen production including dehydroepiandrosterone (DHEA), dehydroepiandrosterone sulfate (DHEAS), and androstenedione (A4). DHEAS≥40 µg/dL is accepted as the biochemical marker of adrenarche. However, adrenals also produce 11-oxygenated C19 androgens such as 11β-hydroxyandrostene...

hrp0094p2-432 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

46,XY DSD due to biallelic DHX37 gene mutations

Eltan Mehmet , Helvacioglu Didem , Ates Esra Arslan , Abali Zehra Yavas , Turan Serap , Bereket Abdullah , Guran Tulay

Background: DEAH-box protein DHX37, encodes an RNA helicase, is involved in ribosome biogenesis. Monoallelic mutations in DHX37 gene have recently been identified in 46,XY differences/disorders of sex development (DSD) patients with nonsyndromic gonadal dysgenesis as well as testicular regression, while biallelic mutations have been associated with microcephaly and structural brain abnormalities. Here, we present a patient with penoscrotal hypospadias and bil...

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 ...

hrp0086p1-p11 | Adrenal P1 | ESPE2016

Evaluation of the Glucocorticoid, Mineralocorticoid, and Adrenal Androgen Secretion Dynamics in A Large Cohort of Patients Aged 6–18 Years with Transfusion-dependent β-Thalassemia Major, with an Emphasis on the Impact of Cardiac Iron Load

Ucar Ahmet , Oner Nergiz , Ozek Gulcihan , Cetincakmak Mehmet Guli , Abuhandan Mahmut , Yildirim Ali , Kaya Cemil , Unverdi Sena , Emeksiz Hamdi Cihan , Yilmaz Yasin , Yetim Aylin

Background: The variable presence of adrenal insufficiency (AI) due to hypocortisolemia (HC) in patients with thalassemia is well established; however, the prevalence of adrenocortical hypofunction (ACH) in the zona glomerulosa and zona reticularis of the adrenal cortex is unknown.Objective and hypotheses: To establish the prevalence of ACH, we examined the cortisol response to 1 μg- and 250 μg- ACTH tests, plasma aldosterone (A)/plasma renin a...

hrp0095p1-415 | Adrenals and HPA Axis | ESPE2022

Basal cortisol measurements in the prediction of low-dose ACTH stimulation test outcomes

Gacemer Hazal , Gurpinar Tosun Busra , Yavas Abali Zehra , Helvacioglu Didem , Haliloglu Belma , Turan Serap , Bereket Abdullah , Guran Tulay

Background: Low-dose adrenocorticotropic hormone stimulation test (LDST) is widely used to assess patients for adrenal insufficiency. However, the predictive power of basal cortisol for the performance of LDST is not clear.Objective: To determine the appropriate basal serum cortisol cutt-off values that predict a positive or negative LDST.Design: A single-centre retrospective study...

hrp0095p1-454 | Diabetes and Insulin | ESPE2022

Clinical and genetic evaluation of patients with maturity onset diabetes of the young (MODY) : Single center experience

Hande Turan , Bayramoglu Elvan , Gunes Kaya Didem , tarcin Gürkan , Bingöl Aydın Dilek , Ercan Oya , Evliyaoglu Olcay

Purpose: MODY is a monogenic diabetes with autosomal dominant inheritance that usually occurs in adolescence or young adulthood. It constitutes 1% of diabetes cases in childhood. The diagnosis of MODY is very difficult due to genetic heterogeneity, rarity, and clinical overlap with other diabetes types. In recent years, the diagnosis of MODY has become easier with genetic developments. On the other hand, misinterpretation of results can cause confusion. In thi...

hrp0082p2-d1-262 | Adrenals & HP Axis | ESPE2014

Mutation Spectrum of CYP11B1 Gene in Turkish Patients with 11β-hydroxylase Deficiency

Kandemir Nurgun , Yilmaz Didem Yucel , Gonc E Nazli , Ozon Z Alev , Alikasifoglu Ayfer , Dursun Ali , Ozgul R Koksal

Background: Deficiency of 11β-hydroxylase is the second most frequent type of congenital adrenal hyperplasia and more common in Turkey than other populations.Objective and hypotheses: The purpose of this study is to examine the spectrum of CYP11B1 gene mutations in Turkish population.Method: 17 patients from 13 families are included in this study. Diagnosis was based on virilisation and high levels of 11-deoxycortisol. 15 case...