ESPE Abstracts

Introduction: Vitamin D-dependent rickets (VDDR) describes a group of genetic disorders characterized by early-onset rickets that develops due to insufficient concentration of active forms of vitamin-D or unresponsiveness to active vitamin D. The aim of this study was to share the clinical features and long-term outcome of cases followed up in our center with the diagnosis of either VDDR-Type-1 and VDDR-Type-2.Method: Pr...

Introduction: Barakat syndrome, also known as HDR syndrome (OMIM 146255), is a clinically heterogeneous, rare, autosomal dominant genetic disorder, characterized by the triad of hypoparathyroidism (H), deafness (D), and renal disease (R). The phenotypic features are attributed to mutations of the GATA3 gene, which encodes a transcription factor essential for embryonic development of the parathyroid glands, auditory system, and kidneys. Here, we report...

Introduction: Aggrecan is a major proteoglycan component of the articular and growth plate extracellular matrix, encoded by the ACAN gene (MIM: 155760). Although short stature and various dysmorphic findings are observed in individuals with ACAN mutations, the relationship between genotype and phenotype is not clear.Case: A 6.75-year-old pre-pubertal girl presented with disproportionate short stature. She was full term f...

Introduction: Luscan-Lumish syndrome (LLS) is a postnatal overgrowth syndrome characterized by macrocephaly, mental retardation, seizures, postnatal overgrowth, and developmental delay, caused by a heterozygous mutation in the SETD2 gene on chromosome 3p21, which exhibits autosomal dominant inheritance.Case Report: A ten-year-old girl presented with menarche. She was born to healthy non-consanguineous parents at 37 weeks...

Introduction: The incidence of Cushing disease (CD) is 0.7-2.4/year per million, andadolescents and children make up 10% of new cases annually. However, thesensitivity and specificity of tests used to diagnose CD in childhood may bepoor, resulting in difficulties in diagnosis and treatment. The aim was to reportpediatric CD patients attending our pituitary referral center for surgery and todescribe their diagnosis, treatment and long-term follow-up.<p clas...

Introduction: Fulminant type 1 diabetes (FT1D) occurs because of a sudden and almost total destruction of pancreatic β-cells, triggered by a viral infection. FT1DM may cause diabetic ketoacidosis (DKA) and even sudden death. Thus prompt diagnosis is vital.Case Report: Antibiotic treatment was started for a 4-year-old female patient because of a fever and cough. On the second day of treatment, she was admitted with r...

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 ...

Introduction: In the last 10 years, blue light (BL) sources such as tablets and phones has increased in every age group. Especially due to the Covid-19 pandemic, screen exposure has also increased in childhood. However, the effects of BL exposure in the puberty process aren’t clear. We aimed to examine the effect of BL exposure and exposure time on pubertyMethods: Immature eighteen 21-day-old female Sprague Dawley ...

Giant prolactinomas are rare tumours, with a prevalence of 0.5–4.4% among all pituitary tumours. In the literature, relatively few series describing their management and outcomes are available; moreover, only individual case reports of giant prolactinomas in children have been documented. We report a 10-year-old boy presented with painless progressive vision loss, insidious in onset, and bitemporal headache of six mounths duration. On physical examination; height: 134.2 ...

Glutamic acid decarboxylase (GAD) is the enzyme that catalyzes the conversion of L-glutamat into GABA, one of the classical neurotransmitters with neuroinhibitory function. GAD is present in GABAergic neurons and in pancreatic beta cells. It is remarkable that Anti-GAD antibody(Anti-GADab) can have different disease manifestations, i.e., Type 1 diabetes mellitus (T1DM), Stiff-Person Syndrome, limbic encephalitis (LE), epilepsy. Cooccurence of T1DM and LE is reported in the lit...