ESPE Abstracts

Background: Turner syndrome (TS) is a genetic disorder related to complete or partial absense of the second X chromosome. TS is characterized by short stature, multiple skeletal anomalies, gonadal failure, autoimmune diseases and multiple congenital organ anomalies. This study aimed to determine phenotype and karyotype correlation and define the frequency of associated problems in TS patients.Methods: Our retrospective s...

Background: Acanthosis nigricans (AN) is a dermatosis characterised by velvety hyperpigmentation, skin thickening, and papillomatosis. AN is generally associated with endocrine disorders (diabetes mellitus, obesity, polycystic ovary syndrome), drugs, and malignancy. In rare cases, it can be unrelated to any systemic disease. Here, we report on a 5-year-old boy from Turkey with diffuse, progressive skin hyperpigmentation.Case report: He was born in a non-...

Background: Williams Syndrome (WS) is a multisystemic genetic syndrome, which includes characteristic appearance of “elfian face”, growth retardation, mild mental retardation, hypersociality, infantile hypercalcemia, and other endocrine, cardiovascular, and urinary abnormalities. WS is caused by the microdeletion of chromosome 7q11.23; it is usually sporadic but rare autosomal dominant familial cases have been reported in the literature. We present a boy and his moth...

Background: Hashimoto thyroiditis (HT) is the most common autoimmune disorder. There are few studies that analysed the relationship between HT and serum vitamin D.Objective and hypotheses: It has been suggested that vitamin D acts as an immunomodulator in autoimmune diseases such as HT Therefore we planned to investigate vitamin D status in euthyroid girls with HT.Method: The study group consisted of 66 euthyroid pubertal girls rec...

Background: Van Wyk–Grumbach syndrome (VWGS) is characterized by breast development, uterine bleeding and multi-cystic ovaries in the presence of long-lasting primary hypothyroidism.Objective and hypotheses: The pathophysiology of VWGS involves a complex mechanism, which is at least partly mediated by the direct action of TSH and FSH receptors.Method: We present a girl with Down syndrome having typical feature...

Background: We aimed to investigate the differences of serum leptin, gonadotropin hormones levels on GnRH stimulation test, and pelvic ultrasound (US) findings between girls with idiopathic central precocious puberty (ICPP) and premature telarche (PT). Additionally, we aimed to determine correlations between leptin and other parameters.Method: Thirty-nine girls who had the breast budding before the age of 8 years and 19 healthy age-matched pre-pubertal g...

Background: There are two main problems that should be solved when encountering adrenal incidentaloma. The first of these is to decide whether the adrenal mass is benign or malignant and the second is to determine whether the mass is hormonally active or not.Objective and hypotheses: We aimed to focus on the approach to adrenal masses in childhood.Method: A case of phaeochromocytoma, which was diagnosed as incidentaloma is presente...

Donohue syndrome(DS) is a rare and often lethal autosomal recessive disease. Its prevalence is estimated less than one in a million live births. Mutations in the insulin reseptor (INSR) gene cause rare severe INSR-related insulin resistance syndromes such as DS. It is characterized by severe insulin resistance (hyperinsulinemia, fasting hypoglycemia and postprandial hyperglycemia), intrauterine and postnatal growth retardation, hypotonia, organomegaly including heart, liver, k...

Background: Hereditary hypophosphatemic rickets with hypercalciuria(HHRH; OMIM: 241530) is a rare autosomal recessive disorder,which is the result of loss-of-function mutations in the sodium-phosphate-cotransporter NPT2c.This disorder is characterized by renal phosphate(Pi) wasting,hypercalciuria,increased 1,25 (OH)2-D levels and decreased parathormone(PTH) levels.Here we report the clinical features of two siblings with HHRH,confirmed with molecula...

Background: DEND syndrome is characterized by developmental delay, epilepsy, and neonatal diabetes mellitus (NDM) due to mutations in KCNJ11 and ABCC8 genes. Intermediate DEND (iDEND) syndrome is a rare mild form with mild motor, speech or cognitive delay and an absence of epilepsy. Improvement in glycemic control and neurologic symptoms has been reported in three cases with iDEND syndrome.Objective and hypotheses: To present the result...