hrp0094p1-78 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Hyperinsulinemic hypoglycemia due to biallelic mutations in the DNAJC3 gene

Gurpinar Tosun Busra , Menevse Tuba Seven , Esen Nisa , Turan Serap , Yesilyurt Ahmet , Guran Tulay , Bereket Abdullah ,

Background: DNAJC3 is an endoplasmic reticulum (ER) co-chaperone involved in folding/processing of secretory and transmembrane proteins. The defect in the ER co-chaperone proteins impairs adaptive ER responses and leads to apoptosis, impairment of organ function with multisystemic involvement. Biallelic mutations in the DNAJC3, described in a limited number of cases cause multiple endocrine dysfunction and neurodegeneration of nervous system.<p cl...

hrp0095p1-11 | Adrenals and HPA Axis | ESPE2022

Low-dose ACTH Stimulation Test: Comparison of Cortisol Response at 30, 40, and 60 Minutes

Gurpinar Tosun Busra , Arikan Hazal , Turan Serap , Bereket Abdullah , Guran Tulay

Background: Low-dose adrenocorticotropic hormone stimulation test (LDST) is commonly used for evaluating the adequacy of hypothalamo-pituitary-adrenal axis functions. However, there is still no standardization between protocols used in different centres.Objective: To contribute to the optimal time of highest cortisol response in the LDST in children.Design: A prospective study of L...

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...

hrp0095p1-173 | 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 ...

hrp0095p1-21 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Etiological analysis of hypophosphatemia: A single-center experience

Eltan Mehmet , Alavanda Ceren , Yavas Abali Zehra , Bayramoglu Elvan , Betul Kaygusuz Sare , Helvacioglu Didem , Gurpinar Tosun Busra , Seven Menevse Tuba , Ata Pinar , Guran Tulay , Bereket Abdullah , Turan Serap

Background: Hereditary hypophosphatemia (HH), is a rare condition related to decreased renal tubular phosphate reabsorption. Although X-linked hypophosphatemia (PHEX mutation) is the most frequent cause of HH, recent advances in the next-generation sequencing (NGS) techniques enable the identification of various genetic etiologies. Our study aims to determine the molecular etiology of patients with hypophosphatemia and to identify new candidate genes....

hrp0095p1-193 | Thyroid | ESPE2022

Diagnostic Features and Risk Factors for Childhood Thyroid Cancers

Sahin Pinar , Gurpinar Tosun Busra , Cemal Yumuşakhuylu Ali , Guran Tulay , Helvacioglu Didem , Yavas Abali Zehra , Haliloglu Belma , Oysu Cagatay , Bereket Abdullah , Turan Serap

A worldwide increase in pediatric thyroid cancers incidence over the years has been observed. Although pediatric thyroid cancers tend to have a more aggressive course compared to adults, the survival rate is better. In this study, we aimed to examine the demographic, clinical, pathological, and laboratory characteristics, prognostic and risk factors of children with thyroid cancer.Methods: We retrospectively analyzed 39 children with thy...

hrp0095p2-271 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Wide phenotypical spectrum with the same karyotype: Mixed gonadal dysgenesis

Seven Menevse Tuba , Gurpinar Tosun Busra , Helvacioglu Didem , Yavas Abali Zehra , Kirmizibekmez Heves , Dursun Fatma , Turan Serap , Bereket Abdullah , Guran Tulay

Context: The 45,X/46,XY mosaicism poses a great clinical challenge influencing gonadal development, histology, hormonal balance, and growth. Patients present a wide spectrum of phenotypes with varying degrees of genital ambiguity from Turner Syndrome to male. Here, we present five children with 45,X/46,XY mosaicism presenting with different clinical phenotypes.Case Descriptions:Case 1:</str...

hrp0092p2-52 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A rare cause of hypophosphatemia: Raine Syndrome

Eltan Mehmet , Ata Pinar , Kirkgoz Tarik , Alavanda Ceren , Betul Kaygusuz Sare , Seven Menevse Tuba , Gurpinar Tosun Busra , Abali Zehra Yavas , Helvacioglu Didem , Guran Tulay , Elcioglu H.Nursel , Bereket Abdullah , Turan Serap

Background: Raine Syndrome (RS) is characterized by hypophosphatemia and typical facial dysmorphic features. Subperiostal thickening and diffuse generalized osteosclerosis are the most common radiological findings. Biallelic loss of function mutations in FAM20Cgene cause RS and by reduction of the transcription of DMP1 leads to FGF23-related hypophosphatemia. Here we present a new case with RS.Case: A 9-month-ol...

hrp0094p2-14 | Adrenals and HPA Axis | ESPE2021

Clinical and hormonal evolution of aldosterone synthase deficiency: Is complete remission possible?

Gurpinar Tosun Busra , Demirkol Yasemin Kendir , Menevse Tuba Seven , Kaygusuz Sare Betul , Ozbek Mehmet Nuri , Altincik Selda Ayca , Mammadova Jammala , Cayir Atilla , Doger Esra , Bayramoglu Elvan , Nalbantoglu Ozlem , Mutlu Gul Yesiltepe , Aghayev AghaRza , Turan Serap , Bereket Abdullah , Guran Tulay ,

Background: Aldosterone synthase de&filig;ciency (ASD) caused by mutations in the CYP11B2 gene is characterized by isolated mineralocorticoid deficiency. Data is scarce regarding clinical and biochemical outcomes of the disease in the follow-up.Objective: Assessment of the growth and steroid profiles of patients with ASD at the time of diagnosis and after termination of treatment.Design an...

hrp0095p1-546 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Change of menarcheal age in schoolgirls living in Istanbul over the last 12 years

Guran Tulay , Alir Fahriye , Taha Arslan Yusuf , Molla Giasim , Sahin Berk , Emir Sayar Mehmet , Atay Zeynep , Helvacioglu Didem , Gurpinar Tosun Busra , Haliloglu Belma , Turan Serap , Hidiroglu Seyhan , Bereket Abdullah

Background: Menarche is the endpoint of a complex sequence of maturational events but is the unique marker of female puberty. Timing of menarche is a strongly heritable trait. However, secular trends suggest that lifestyle and/or environmental factors are important.Objective: To assess the trend in age at menarche (AAM) in Istanbul over the last 12 years, and compare the patterns according to socioeconomic status (SES), ...