ESPE Abstracts

Background: Hypophosphatemic rickets is a clinical picture with inadequate bone mineralization that develops following renal phosphate loss. One of the most common complications in this group of patients is nephrocalcinosis. However, the mechanisms causing nephrocalcinosis are not clear.Objective and hypotheses: The aim of our study was to define the risk factors affecting the development of nephrocalcinosis, which is reported to be seen at a rate of 50%...

Background: 17β-Hydroxysteroid dehyrogenase type 3 (17βHSD-3) deficiency is an autosomal recessive form of 46,XY disorder of sex development (DSD). 17βHSD-3 is present almost exclusively in the testes and converts androstenedione to testosterone. The diagnosis can be easily missed in early childhood as the clinical presentation may be subtle. The most frequent presentation of 17βHSD-3 deficiency is a 46,XY individual with female external genitalia, labial f...

Background: Congenital hypothyroidism (CH) is divided into two main groups as ‘permanent’ and ‘transient’. Diagnosis of transient hypothyroidism is important to avoid lifelong unnecessary therapy with its possible side effects.Objective and hypotheses: We aimed to determine the rate of transient and permanent congenital hypothyroidism of the newborns referred to our clinic from the neonatal screening program in this study.</st...

Introduction: Complete androgen insensitivity syndrome (CAIS) is a sexual development disorder due to mutations that cause function loss in androgen receptors in 46, XY individuals. The risk of malignancy development until the age of 25 years in CAIS is 5–10%. We present a CAIS case where a Sertoli cell tumour was found, together with the USG and MR findings.Case: A 17-year-old female presented to our department complaining of amenorrhoea. She had a...

A 13-year-old patient was admitted due to delayed puberty. Ovary and uterus had not seen in USG and MRI. On physical examination; body weight: 57 kg (79 P), height 157.7 cm (45P), BMI: 22.9 (83P), TA: 120/80 mmHg. The patient was externally in female appearance and there was no puberty development. Labia minora was seen. The urethral and vaginal openings were in the vestibulum and bilateral gonads could not be palpated in the inguinal canal. Mother and father was cousin. Fathe...

Background/Aim: Type 1 diabetes Mellitus (T1DM) often presents with clear clinical signs after a long-term asymptomatic autoimmune process. This long and silent period has been leading to an increase in awareness day by day in order to prevent and predict the development of the disease. Among the well-known genetic and environmental risk factors, close relatives of the index cases constitute a population that is quite suitable for predicting and preventing the...

Objective: The clinical, laboratory and prognostic findings of the patients diagnosed with Kowarski Syndrome (biologically inactive growth hormone) were evaluated between February 2009 and February 2019 in order to contribute to literature.Materals and Methods: 110 cases diagnosed with Kowarski syndrome between February 2009 and February 2019 were evaluated retrospectively. 97 cases continued to work. 92 cases at least one year, 62 cases...

Introduction: Noonan Syndrome (NS) is a heterogeneous group of diseases with a genetic etiology affecting the RAS/MAPK signaling pathway known as RASopathy. Genes known to cause NS are PTPN11, KRAS, SOS1, RAF1, BRAF, SHOC2 and RIT1. There are sufficient studies indicating that recombinant growth hormone (rhGH) therapy can be given without increasing risk of developing cancer in NS cases with PTPN11 mutations from different centers. In this study, it was aimed ...

Background: The timing of puberty in children is occurring at an increasingly early age. During the COVID19 pandemic period, children experienced changes such as epidemic stress, sedentary life, and weight gain.Aim: To make a retrospective evaluation of the incidence of newly diagnosed central precocious puberty (CPP) during the first months of COVID-19. And to compare these corresponding data with the previousy ear....

Introduction: Beta thalassemia major (βTM) is an autosomal recessive anemia characterized by a defect in the production of the β-globin chain of hemoglobin. There may be endocrine problems secondary to hemochromatosis in the clinical follow-up of the patients. Here, a case who was followed up with the diagnosis of βTM, consulted for primary amenorrhea and diagnosed with 5-alpha reductase deficiency (5ARD) is presented and clinical follow-up expe...