ESPE Abstracts

Objectives: Forkhead box A2 (Foxa2) is a transcription factor that plays a key role in foregut, pancreatic and central nervous system development. Here, we describe a 7 years old boy whose phenotype is consistent with FOXA2 defect.Case: A 3 months old boy was referred for recurrent hypoglycemic events. He was born to unrelated parents at term with a birth weight of 3690 gr. At 6 hours of life he had severe hypoglycemia (...

Introduction: Policystic ovarian syndrome (PCOS); is an endocrinopathy characterised by overlap of hyperandrogenism and hyperinsulinism and chronic anovulation. Etiopathogenesis is still not clearly defined. Fetuin-A is aserum glycoprotein. It is shown to play regulatory functions in many inflammatory processes. We aim to define the relationship of fetuin-A levels with hyperandrogenism and hyperinsulinism in PCOS patients and study the role in pathophysiology....

Introduction: Testicular regression syndrome (TRS) is a rare disease characterized by testicular dysfunction that causes varying degrees of virilization defect according to the emergence period in fetal life. The majority of cases present with normal male external genitalia. However, ambigious genitalia or, more rarely, female external genitalia can be found depending on the extent and timing of the intrauterine accident. Here, we present a case of TRS with no...

Background/Aims: Magnetic resonance imaging (MRI) is used to investigate the etiology of growth hormone deficiency (GHD). There is a close relationship between structural changes in the pituitary gland and clinical status.We aimed to investigate the relationship between MRI findings and clinical symptoms and treatment response in children with GHD.Methods: The study was conducted in nine Department...

Introduction: Turner Syndrome (TS) is known to be associated with a high risk of cardiac anomalies and cardiovascular diseases. Detailed cardiac evaluation at diagnosis and serial evaluation for dissection is warranted.Aim: This study aimed to evaluate TS patients for cardiac pathology using MRI.Methods: Clinical findings, karyotypes, echocardiogram results, cardiac MRI findings of 33 patients with TS were evaluated. Measurements o...

Background: Aromatase excess syndrome (AEXS) (OMIM 139300) is a rare condition characterized with gynecomastia in boys and macromastia in girls. Estrogen excess in boys can lead to prepubertal and pubertal gynecomastia, bone age progression and short adult stature. While most of girls are usually asymptomatic, there are few reported female patients with excessive breast growth, early puberty, menstrual irregularities, and short adult stature. Male and female children with AEXS...

Objective: To study the clinical features and gene mutations of neonatal diabetes mellitus (NDM) in Chinese patients.Methods: Patients with clinically diagnosed NDM were subjected to genetic screening by targeted gene capture of the genes associated with glucose metabolism, and followed up.Results: Of the 23 cases of NDM studied, 16 (69.6%) were permanent neonatal diabetes mellitus (PNDM), 6 (26.1%) were transient neonatal diabetes...

Introduction: Familial hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disease characterized by very low serum magnesium levels. It is caused by mutations in the gene encoding the transient receptor potential melastatin 6 (TRPM6). It typically occurs in the first months of life with symptoms of increased neuromuscular excitability such as convulsions, muscle spasms and tetany. Prolonged untreated hypomagnesemia may lead to developmenta...

Introduction: Prohormone convertases are a family of proteins that mediate the processing and activation of peptide hormones and neuropeptide precursors. Homozygous mutations of the PCSK1 gene result in prohormone convertase 1 deficiency that is characterized by diarrhea, hypoglycemia, multiple pituitary hormone deficiency beginning from neonatal period and obesity beginning after infancy.Case: A 35-day-old boy was referred to our hospit...

Purpose: Our study aimed to examine the effects of blue light exposure on prepubertal male rats’ puberty and testis tissue.Methods: Eighteen 21-day-old male Sprague Dawley rats were divided into three groups consisting of six rats in each group: Control Group (CG), Blue Light-6 hours (BL-6), and Blue Light-12 hours (BL-12). CG rats were maintained with 12/12-hour light-dark cycles. The rats of BL-6 and BL-12 were e...