ESPE Abstracts

Introduction: Steroidogenic factor-1 (SF1/NR5A1) is a nuclear receptor, which regulates genes that have functions in the development of adrenal glands and gonads, reproduction, and other metabolic functions.Case presentation: A 20-day-old infant was admitted due to ambiguous genitalia. Physical examination revealed a 2×1 cm phallus, bifid scrotum, and hypospadias. Both gonads were palpable in the inguinal canal. Serum levels of adrenal androgens (17...

Background: Androgen insensitivity syndrome is the most common cause of 46,XY disorders of sex development. This condition is inherited in an x-linked recessive pattern and the most common causes are inactivating mutations in the androgen receptor (AR) gene.Objective and hypotheses: In this study, we report a novel AR gene mutation in an adolescent patient presenting with primary amenorrhea.Method: A 16-year-old p...

Background: There exists no gold standard for adjustment of treatment in congenital adrenal hyperplasia. Clinicians try to avoid over-and undertreatment by considering various indicators. We aimed to investigate the sampling times of 17-hydroxyprogesterone (17-OHP) and the use of sex hormone-binding globulin (SHBG) as a monitoring parameter, the association of which was not studied with clinical features. Materials and Methods: This cross-sectional study inclu...

Background: Various studies, mostly conducted in adults, evaluated the hormonal axis in primary empty sella (PES), and reported different forms of pituitary deficiencies. We report our 10-year experience of pediatric cases with PES, investigating the pituitary function, associated impairments, and responses to treatments.Materials and Methods: We reviewed 10,560 cranial and 325 pituitary magnetic resonance imagings (MRIs) performed in ou...

Introduction: Thyroid hormone resistance (THR) is a syndrome characterized by decreased response to thyroid hormones in target tissues. Thyroid hormone receptor resistance alpha (THRRα) is an autosomal dominant inherited disease that is characterized by near-normal thyroid function tests (TFT) and tissue-specific hypothyroidism, and is likely to be missed in practice.Case: 10-month-old male patient was referred to ...

Background: The most common reason for the increased mortality and morbidity in TS, which results from partial or complete deficiency of an X chromosome in a female, is acquired cardiovascular disease, which is the result of endothelial dysfunction that causes atherosclerosis. Endocan, an inflamatory marker, has been found elevated in several diseases with endothelial dysfunction (ED). There is no study of endocan levels in TS.Ob...

Background: Monogenic defects are among the significant causes of early-onset non-syndromic severe obesity in childhood. Identifying the genetic cause of obesity can guide for treatment. The aim of our study is to investigate the clinical and biochemical features of patients with early-onset severe obesity and evaluate the underlying molecular diagnosis.Materials and Methods: A total of 39 patients (M/F: 22/17) with non-...

Introduction: The prevalence of celiac disease is 5–10 times higher in patients with type 1 diabetes mellitus (DM) than in the general population. Therefore, celiac serology should be screened intermittently in type 1 DM patients. However, anti-tissue transglutaminase (anti-TTG) antibody elevation may be detected incidentally at the time of type 1 DM diagnosis and regress spontaneously during follow-up, without medical or dietary interventions.<p clas...

Background: Intratubular Large Cell Hyalinizing Sertoli Cell Neoplasia (ITLCHSCN) resulting from Sertoli cells of the testis are mainly reported in young adults and these are rarely seen in childhood.Objective and hypotheses: In this case report, an eight-and-a-half-year old case presenting with complaint of bilateral gynecomastia since two years, showing no endocrine abnormality in laboratory during 2-years of follow-up, determined to have progression i...

Background: The exact mechanism of the partial clinical remission in type 1 diabetes mellitus (T1DM) has not been elucidated yet. The severity of the inflammation at the time of diagnosis may have an impact on the occurrence or duration of this phase.Objective: We aimed to investigate the relationship between hematological inflammatory parameters at the time of diagnosis in children and adolescents with T1DM and the need...