ESPE Abstracts

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...