hrp0095p1-372 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Premature ovarian failure in a tall adolescent

Dağdeviren Çakır Aydilek , Çetinçelik Ümran , Uçar Ahmet

Introduction: Primary ovarian failure (POF) is traditionally defined as cessation of menstruation prior to 40 yr of age and diagnosis is confirmed by elevated serum FSH levels (often above 40 IU/L). It is known that 0.1% of the population is affected with POF before age 30 yr. Here, we report a case with POF, who presented wit tall stature due to structural abnormalities in X chromosome.Case Report: A 13.5 year-old-adole...

hrp0097rfc11.6 | GH and IGFs | ESPE2023

Evaluation Of The Growth Hormone-Insulin like Growth Factor1 Axis And Serum Fibroblast Growth Factor 21 Levels As Related To Stature In Children And Adolescents With Coeliac Disease Adherent To Gluten Free Diet

Kaya Fırat , Urgancı Nafiye , Merve Usta Ayşe , Çelik Sedanur , Uçar Ahmet

Background: Coeliac disease(CD)is a common cause of stunted growth. Despite adherence to gluten-free diet(GFD), short stature may persist in some patients with CD. Studies investigating the growth hormone(GH)-insulin like growth factor-1(IGF1) axis in children and adolescents withCDare scant and inconclusive. Fibroblast growth factor-21(FGF-21)is a181amino acid polypeptide that plays a role in growth, lipid and glucose metabolism. The inhibitory effects of FGF...

hrp0097p1-232 | Diabetes and Insulin | ESPE2023

A Case with Alstrom Syndrome with a Novel Pathogenic Variant In ALMS1 gene as a Rare Cause of Diabetes Mellitus

Dağdeviren Çakır Aydilek , Gizem Bolaç Özyılmaz Leyla , Uçar Ahmet

Introduction: Alstrom syndrome (ALMS) is an autosomal recessive disorder characterized by multiple organ involvement, including progressive cone-rod dystrophy, sensorineural hearing loss, childhood obesity, and type 2 diabetes mellitus. Pathogenic variants in the ALMS1 gene are the known cause for the occurrence of this devastating condition. Here, we reported a case of Alstrom syndrome with a novel homozygous variant in the ALMS gene, who presented to our cli...

hrp0097p1-470 | Fat, Metabolism and Obesity | ESPE2023

Evaluation of the Frequency and Time Course of Side Effects Asscociated With Metformin Use In Obese Adolescents As Related to Weight Loss: A Prospective Single-Centre Observational Study

Mısırlı Özdemir Ebru , Dağdeviren Çakır Aydilek , Bilge Özakçe Mehmet , Uçar Ahmet

Background: Metformin is a well-known biguanide approved for treatment of Type2 Diabetes. Metformin is not considered as an anti-obesity drug despite its common off-label use. Currently, there are no data regarding the profile of metformin related gastrointestinal side effects (MRGSE) in obese adolescents.Aim: To identify the frequency and time course of MRGSE in obese adolescents and assess the presence of any associati...

hrp0092p2-255 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

A Rare Cause of 46, XX ovotesticular DSD: Tetragametic Gonadal Chimerism

Uçar Ahmet , Güran Tülay , Eren Funda , Dokucu Ali Ihsan , Sahin Süleyman , Tanik Canan

Introduction: Virilization and hirsutism are clinical findings of androjen excess in females mostly due to polycystic ovary syndrome, although androgenic drugs, nonclassic congenital adrenal hyperplasia and androgen secreting adrenal/ovarian lesions are also implicated. 46, XX ovotesticular disorder of sex development (DSD) is the rarest form of DSD with an incidence of less than 1 in 20000.Case report: A 15-year-old ado...

hrp0095p1-170 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Increased Circulating Levels of Myo-inositol in Girls with Polycystic Ovary Syndrome

Üçer Bahadır Nisan , Metin Güler Eray , Kale Ebru , Aktaş Selman , Dağdeviren Çakır Aydilek , Kocabey Sütçü Zümrüt , Esen Firuzan , Beyaztaş Hakan , İmran Daştan Ali , Uçar Ahmet

Background: Myo-inositol(MI)is a polyol involved in intracellular signaling pathways of insulin and MI has been used orally for therapeutic purposes in girls and adult women with polycystic ovary syndrome(PCOS)with variable success. As yet, serum MI levels have not been assessed in girls with PCOS.Aim: Our primary goal was to compare serum MI levels in girls with PCOS with those in healthy peers. Secondary goal was to in...

hrp0095p1-385 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A Rare and Treatable Cause of Prepubertal Gynecomastia: Large Cell Calcifying Sertoli Cell Tumor

Kağızmanlı Akın , Besci Özge , Yüksek Acinikli Kübra , Şeker Gül , Yaşar Elif , Öztürk Yeşim , Demir Korcan , Böber Ece , Abacı Gözde Ayhan

Introduction: Gynecomastia is common in boys at early-mid puberty, while prepubertal gynecomastia is a rare condition. Sertoli cell tumors (SCTs) account for 2% of prepubertal testicular tumors. Most of the SCTs in prepubertal boys, which are generally bilateral and diffuse, are in the content of Peutz-Jeghers Syndrome (PJS) or other familial syndromes (Carney complex). Large cell calcifying Sertoli cell tumor (LCCSCT) is a variant of SCT and is seen in PJS. I...

hrp0092p3-159 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Three Cases with Familial Short Stature: Leri-Weill Syndrome

Ayranci Ilkay , Çatli Gönül , Eroğlu Filibeli Berna , Manyas Hayrullah , Bekir Kutbay Yaşar , Koç Altuğ , Nuri Dündar Bumin

Introduction Objective: The SHOX gene is located in pseudoautosomal region of chromosomes of Xp22.33 and Yp11.32. It plays role in proliferation and differentiation of epiphyseal chondrocyte. Leri-Weill syndrome is observed with loss of an allele, while missense mutations lead to idiopathic short stature without any dysmorphic findings. This report presents clinical features of three cases diagnosed with Leri-Weill syndrome, and their responses to rhGH treatme...

hrp0095p1-26 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Outcomes of four patients with osteonecrosis after one-year pamidronate treatment

Yüksek Acinikli Kübra , Besci Özge , Yaşar Elif , Tüfekçi Özlem , Karadağ Zehra , Yıldız Gizem , Torun Rüya , Akın Kağızmanlı Gözde , Torun Bayram Meral , Yılmaz Şebnem , Güleryüz Handan , Abacı Ayhan , Böber Ece , Demir Korcan

Background: Osteonecrosis (ON) is bone death caused by inadequate blood supply resulting in demineralization and trabecular thinning and, subsequently, mechanical failure. Although the pathophysiology of ON is not fully understood, the use of high-dose glucocorticoid (GC) is one of the triggers. Furthermore, its optimal management remains uncertain. The use of bisphosphonates (BP) for the treatment of ON has been reported, however, data on outcomes are limited...

hrp0097p1-30 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

A Novel Stop Codon Mutation in Exon 6 (c.508A>T) of TRAPPC2 gene in a Patient with X-Linked Spondyloepiphyseal Dysplasia Tarda: A Case Report

Yaşar Deniz , Güleray Lafcı Naz , Karacan Küçükali Gülin , Araslı Yılmaz Aslıhan , Özkaya Dönmez Beyhan , Tahir Yazar Burak , Uçan Berna , Okur İclal , Sarıkaya Özdemir Behiye , Kurnaz Erdal , Keskin Melikşah , Savaş Erdeve Şenay

Spondyloepiphyseal dysplasia tarda (SEDT) is an inherited disorder that is diagnosed in childhood or adolescence presents with disproportionate short stature and premature osteoarthritis with frequently affecting men. Here, we described a novel nonsense mutation, c.508A>T; p.Lys170Ter, in TRAPPC2 in a Turkish patient with X-linked SEDT. The patient is a 15-year-old boy from Turkish non-consanguineous parents, presented decreasing height velocity last three years and also th...