ESPE Abstracts

Introduction: Pituitary stalk interruption syndrome is a rare congenital abnormality of the pituitary gland manifesting with varying degree of anterior pituitary insufficiency. It is presented with isolated growth hormone deficiency or multiple anterior pituitary hormone deficiencies. It is characterized by the triad of thin or interrupted pituitary stalk, hypoplasia or aplasia of adenohypophysis and ectopic or absent neurohypophysis. It is manifested with hyp...

Objective: Mixed gonadal dysgenesis (MGD) (45,X,46,XY mosaicism) is a rare chromosomal disorders of sexual development (DSD). In this article, single center data were evaluated.Material Method: From the files of ten patients followed up with the diagnosis of mixed gonadal dysgenesis, complaints and physical examination findings, laboratory tests, chromosome analysis, FISH results, ultrasound, laparoscopy, pathology repor...

The genetic causes of 46, XY disorders of sex development (DSD) are mostly unknown, having been identified in only 20-35%. Mitogen-activated protein kinase 1, part of the MAPK signaling pathway, which controls testicular development, is one of the etiological genetic pathways. Here, we present a case of 46, XY DSD with heterozygous MAP3K1 variant. A 6-month-old baby was referred to pediatric endocrinology because of ambiguous genitalia. They were born by C-section at 28 weeks ...

Aim: We present a case with clinical manifestations of HDR (hypoparathyroidism, sensorineural deafness, and renal dysplasia) syndrome resulting from a missense variant in the GATA3 gene, which is not yet reported in the patients defined in the literature to our knowledge.Case presentation: A 13-year-old male patient, presented to the emergency department with a suspected seizure history. He reportedly woke up du...

Aim: In numerous studies, a decrease in sleep quality and regulation has been reported in patients with type 1 diabetes (T1D). However, research on sleep disturbances in T1D patients is limited. Diagnosis of sleep disorders is crucial as this condition adversely affects cognitive functions in children, which in turn affects the essential skills required for diabetes management. We aim to assess sleep disorders in patients diagnosed with T1D and investigate the...

Objective: Cystic fibrosis (CF) associated diabetes (CFRD) is a common comorbid condition in individuals with CF and its prevalence increases with age. There are reports in children aged 10 years and younger. The aimof this study was to estimate insulin resistance by HOMA-IR (Homeostatic Model Assessment) with oral glucose tolerance test (OGTT) data and Matsuda index to test glucose metabolism in relation to Matsuda insulin secretion in children with CF.<p...

Objective: To enhance the detection, management and monitoring of Chinese children afflicted with sitosterolemia by examining the physical characteristics and genetic makeup of pediatric patients.Methods: In this group, 26 children were diagnosed with sitosterolemia, 24 of whom underwent genetic analysis. Patient family medical history, physical symptoms, tests for liver function, lipid levels, standard blood tests, phyt...

Introduction: Rathke's cleft cyst (RCC) is a non-neoplastic epithelial lesion of the sellar or suprasellar region. Although most RCC cases are asymptomatic, they can present with headache, visual defects, and endocrine dysfunction. We present a case diagnosed with a giant RCC postoperatively, characterized by short stature and multiple pituitary hormone deficiencies.Case: A 15-year-old male, who came with complaints...

Introduction: 11-beta hydroxylase deficiency(11β-OHaseD) is the second frequent congenital adrenal hyperplasia(CAH) form. This study aimed to determine demographic and genetic characteristics and final height, to evaluate the long term clinical follow-up of children&/adolescents with 11β-OHaseD.Material and Methods: The study is designed as a multicenter, national, retrospective. 60 cases from 11 Pediatric ...

Introduction: Homozygous leptin (LEP) and leptin receptor (LEPR) mutations lead to childhood-onset obesity due to deficient leptin signaling. The specific aims of this work are to explore genotype/phenotype correlations in a national multicenter cohort of 18 subjects with leptin (LEP) and leptin receptor (LEPR) deficiency, report on the long-term clinical follow-up of these rare cases, and systematically review all patients with pathogenic <e...