hrp0086p2-p845 | Syndromes: Mechanisms and Management P2 | ESPE2016

The 3M Syndrome: A Cause of Pre- and Post-Natal Severe Growth Retardation

Genens Mikayir , Altunoglu Umut , Bas Firdevs , Poyrazoglu Sukran , Abali Zehra Yavas , Bundak Ruveyde , Darendeliler Feyza

Background: 3-M syndrome is an autosomal recessive growth disorder characterised by severe pre- and post-natal growth retardation caused by mutations in CUL7, OBSL1 or CCDC8. Clinical characteristics include dysmorphic facial features and fleshy prominent heels with a variable degree of radiological abnormalities.Objective and hypotheses: Evaluation of four new patients from two different families. Cases:Family-1/Patients-1,2: Two ...

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...

hrp0097fc13.4 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Clinical and molecular genetic characteristics of 98 patients with congenital hypopituitarism: A single-center experience

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

Background: Congenital hypopituitarism (CH) refers to a deficiency of one or more pituitary hormones resulting from variants in genes encoding transcription factors for pituitary development. CH cases are mostly sporadic but 5-30% can be familial. Genetic etiology is not determined in most cases. The aim of our study was to evaluate the genetic features of CH using different molecular and/or molecular cytogenetic techniques.Subje...

hrp0098p1-277 | Pituitary, Neuroendocrinology and Puberty 4 | ESPE2024

A rare cause of hypogonadotropic hypogonadism: KLB gene variant in a prepubertal boy evaluated for micropenis

Yavas Abali Zehra , Yesilyurt Ahmet , Demircioglu Serap , Guran Tulay , Haliloglu Belma , Bereket Abdullah

Background: Micropenis may have various causes, like hormonal imbalances during fetal development, disorders affecting hormone production/action, and genetic factors. Determining the etiology may be challenging, especially in isolated cases and a thorough medical evaluation is typically necessary. The identification of genetic etiology is facilitated by the wide use of next-generation sequencing technologies. Here we report a patient presented with micropenis ...

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...

hrp0095p1-351 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Evaluation of Early Puberty in Patients with MC2R Deficiency

Karakilic Ozturan Esin , Bas Firdevs , Yavas Abali Zehra , Karaman Volkan , Poyrazoğlu Sukran , Oya Uyguner Zehra , Darendeliler Feyza

Background: Melanocortin receptor 2 (MC2R) is expressed in the adrenal cortex and has a major role in the control of the hypothalamic-pituitary-adrenal axis. It is reported that the ACTH receptor MC4R has an impact on premature adrenarche. The melanocortin signaling system is reported to have leptin mediated effect on the regulation of GnRH neuron activity and has an important role in the onset of puberty and fertility.Objective:...

hrp0095p1-173 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Differences due to the variant type in the inheritance pattern of BMP15 gene-related primary ovarian insufficiency: a girl with a homozygous null BMP15 gene variant

Yavas Abali Zehra , Arslan Ates Esra , Eltan Mehmet , Gurpinar Tosun Busra , Bereket Abdullah , Guran Tulay , Turan Serap

Background: Bone morphogenetic protein 15 (BMP15), is an oocyte-specific growth factor, that regulates folliculogenesis and ovulation rate. It is encoded by the BMP15 gene (chromosome Xp11.2), in which heterozygous missense variants in the precursor or mature peptide cause primary ovarian insufficiency (POI) with the dominant-negative effect. BMP15-related ovarian dysgenesis (OD) constitutes 1.5-2.0% of POI. The underlying mechanism ...

hrp0086p1-p218 | Diabetes P1 | ESPE2016

Clinical Characteristics and Molecular Analysis of Patients with Neonatal Diabetes

Yavas Abali Zehra , Bundak Ruveyde , Bas Firdevs , De Franco Elisa , Genens Mikayir , Poyrazoglu Sukran , Ellard Sian , Hattersley Andrew , Darendeliler Feyza

Background: Neonatal diabetes mellitus (NDM) is a form monogenic diabetes diagnosed under 6 month of age.Objective and hypotheses: To describe the clinical and molecular features of NDM patients in a Turkish cohort.Method: Fifteen patients (13M, 2F) with diabetes onset before 6 months of age were included in the study. Clinical and molecular data were evaluated retrospectively.Results: Mean age at diagnosis w...

hrp0084p2-362 | Fat | ESPE2015

Nonalcoholic Fatty Liver Disease and Intestinal Inflammation in Obese Children

Abali Zehra Yavas , Saygili Seha , Ozden Tulin , Cantez Serdar , Bas Firdevs , Ertekin Vildan , Bundak Ruveyde , Durmaz Ozlem , Darendeliler Feyza

Background: The prevelance of pediatric obesity is increasing in childhood. Nonalcoholic fatty liver disease (NAFLD) is frequently associated with obesity, insulin resistance (IR), diabetes, and hypertriglyceridemia. Gut microbiota was suggested to play a role in both etiology of NAFLD and also progression to steatohepatitis. Feacal calprotectin (FCP) is a noninvasive marker of intestinal inflammation.Objective and hypotheses: To evaluate FCP and its ass...