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 ...

Context: Duplications occurring upstream of the SOX9 gene have been identified in a limited subset of patients with 46,XX testicular/ovotesticular differences/disorders of sex development (DSD). However, comprehensive understanding regarding their clinical presentation and diagnosis is limited.Objective: To gain further insight into the diagnosis of a large cohort of 46,XX individuals with duplications upstream ...

Introduction: There is a complex and multifaceted relationship between antiepileptic drugs (AEDs) and the neuroendocrine system. Thyroid hormone (TH) sensitivity reflects thyroid homeostasis more comprehensively than serum hormone levels. It is clear whether TH sensitivity is associated with the use of AEDs. In this study, the evaluation of thyroid hormone sensitivity is aimed in euthyroid cases treated with antiepileptic drug therapy. In this study, the evalu...

Introduction: Syndromic obesities are characterized by malformations, dysmorphic features, and/or neurodevelopmental disorders. This paper reports the clinical characterization of a duplication showing familial transmission in the Xq27.3q28 region containing the FMR1 gene, presenting symptoms such as obesity, hypogonadism, gynecomastia, short stature, and intellectual disability.Case Presentation: A 17-year-old male pati...