ESPE Abstracts

Introduction: SHOX deficiency is the most common cause of monogenic short stature and results in short stature with a highly variable phenotype. In this study, we aimed to detect SHOX gene pathologies in patients who applied to the pediatric endocrine outpatient clinic with short stature and who were found to have Madelung deformity on hand-wrist radiography, and to evaluate the clinical, laboratory features and responses to growth hormone (GH) treatment.<...

Introduction and Purpose: The appearance of secondary sex characteristics 2-2.5 standard deviation score (SDS) earlier than the expected age is defined as precocious puberty. Childhood obesity has emerged as an important public health problem in recent years. GnRH stimulation test is considered the gold standard in the diagnosis of precocious puberty. Our study aims to determine possible differences in responses according to body mass index in female patients ...

Introduction: Neonatal severe hyperparathyroidism (NSHPT) is a life-threatening disease characterized by hypercalcemia and bone demineralization due to homozygous or compound heterozygous loss-of-function mutations in the calcium-sensing receptor (CaSR) gene. Most cases require emergency parathyroidectomy to be life-saving. Alternative treatments, such as pamidronate and cinacalcet, may be used until surgery is feasible. We present a case of severe hypercalcem...

Introduction: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, caused by mutations in the ABCD1 gene localized on Xq28, affecting the adrenal cortex, nervous system, and testicular functions. It is characterized by the deficiency in transporting very long-chain fatty acids (VLCFA). We present a case of a boy diagnosed with adrenoleukodystrophy and discuss the importance of family screening, as his sibling was diagnosed th...

Introduction: Phosphatase and tensin homolog (PTEN) is a tumor suppressor gene involved in the PI3K/AKT/mTOR pathway. Mutations in the PTEN gene are known to cause PTEN Hamartoma Tumor Syndrome (PHTS), an autosomal dominant disorder. This syndrome is characterized by proliferative lesions in various tissues, including the thyroid gland, breast, gastrointestinal system, kidneys, and endometrium. We present a patient who initially presented with a breast mass an...

Introduction: Mini-puberty is defined as the transient activation of the hypothalamic-pituitary-gonadal (HPG) axis during the first 3-6 months of life. Postnatal HPG activation occurs more robustly and for a longer duration in premature infants compared to term infants. In this report, we present a case of severely premature infant who presented with vaginal bleeding during the mini-puberty period.Case: A 5-month and 12-...

Introduction: Intracranial teratomas constitute 0.5% of all intracranial tumors. Teratoma localized in the sellar region is very rare in children. Here, we will present a case in which growth hormone deficiency was detected upon admission with complaints of short stature, craniopharyngioma was considered on cranial imaging, and sellar teratoma was diagnosed during the operation.Case: A four-year-ten-month-old male patien...

Introduction: Hyperinsulinemic hypoglycemia (HH) is characterized by inappropriate insulin secretion from pancreatic β-cells despite low blood glucose levels. The most common mutations causing HH affect the KATP channel genes [ABCC8 (36.8%) and KCNJ11 (5.9%)]. This report shares the experience of transitioning from daily subcutaneous octreotide to long-acting octreotide-LAR in a patient with HH due to a KATP channel mutation.<p class...

Introduction: Lysineuric protein intolerance (LPI) is a rare autosomal recessive disorder caused by mutations in the SLC7A7 gene, which impairs the intestinal, renal and hepatic absorption of basic amino acids (lysine, arginine, ornithine). Children with LPI may present with protein avoidance, growth retardation, hepatosplenomegaly and osteoporosis. Here, we present two cases diagnosed with LPI due to short stature, with one case involving growth horm...

Introduction: The SHOX (short stature homeobox) gene, located in the pseudoautosomal region of the X and Y chromosomes, implicated in Leri-Weill dyschondrosteosis, Langer mesomelic dysplasia, idiopathic short stature. Growth hormone (GH) therapy has proven effective in promoting height gain in patients with SHOX deficiency. We will present a case who was treated for borderline precocious puberty and diagnosed with Leri-Weill dyschondrosteosis upon adm...