ESPE Abstracts

Background: Hypothalamic obesity is the most flagitious endocrinologic problem following surgical intervention for childhood brain tumors. Thus, recognition of this condition and identification of risk factors for mortality is important.Objective and hypotheses: In this study, we have shared our single center experience in obesity-related mortality in children with hypothalamic obesity.Method: We retrospectively analyzed 20 patient...

Background: Studies evaluating the gain in final height in patients with idiopathic central precocious puberty (ICPP) report variable outcomes and mostly lack comparison with untreated controls.Objective and hypotheses: To compare the final height of ICPP patients treated with GnRH analog with and untreated control group.Method: 48 girls with ICPP treated with GnRH analog and 52 untreated girls with ICCP (due to late referral or re...

Background: Diagnosis of GH deficiency (GHD) is a complicated issue especially in isolated GH deficiency. Auxological evaluation, IGFI, IGFBP3 levels and GH response to provocative testing are all considered in the diagnosis. However, cut-off values for GH levels at stimulation tests are controversial. We aimed to evaluate the response to rhGH treatment in patients with different GH peak levels in stimulation test.Objective: We aimed to evaluate the resp...

Background: Short stature is the most common presenting symptom in Turner Syndrome (TS). GH treatment helps alleviating short stature in TS, although response to treatment varies significantly.Objective and hypotheses: We aimed to evaluate the response to GH treatment and factors affecting this response in children with TS.Method: Forty-nine patients with TS diagnosed by cytogenetic analysis and who had been followed minimum of 1-y...

Background: Obesity is a multifactorial disease caused by environmental and genetic factors. Single gene defects explain approximately 5-13% of early-onset obesity and these rates vary according to genetic panel used and the rate of consanguinity in the population studied. As the new treatment modalities emerge for monogenic obesity, it is important to identify the molecular etiology of obesity.Materials and Methods: Buc...

Background: Low-dose adrenocorticotropic hormone stimulation test (LDST) is widely used to assess patients for adrenal insufficiency. However, the predictive power of basal cortisol for the performance of LDST is not clear.Objective: To determine the appropriate basal serum cortisol cutt-off values that predict a positive or negative LDST.Design: A single-centre retrospective study...

Background: Pycnodysostosis is an autosomal recessive disease characterized by short stature, osteosclerosis, increased bone fragility. In these patients maxillary and mandibular hypoplasia, flattening of the mandibular angle, long soft palate, narrow palate structure can lead to pharyngeal narrowing and obstructive sleep apnea syndrome (OSAS).Objective and hypotheses: Our aim was to evaluate sleep disordered breathing in children with pycnodysostosis.</...

Introduction: Hypophosphatemic rickets is usually due to genetic causes but in rare cases it can develop secondary to MAS, Fanconi syndrome, or oncogenic causes. Oncogenic osteomalacia, also called Tumor-Induced Osteomalacia (TIO), is a rare acquired paraneoplastic syndrome that develops as a result of excessive phosphate loss from renal tubules by FGF23 released from tumour tissue. In addition to the clinical features of rickets, gait disturbances, growth ret...

Aim and Method: Diagnosis of type 1 diabetes (T1DM) may be delayed in some children, despite seeking medical care by the family. In this prospective/observational study, the time and process from consulting with a doctor to getting diagnosed with diabetes was investigated in patients hospitalized for newly diagnosed T1DM between 2021-2022.Results: During the study period total of 114 newly diagnosed T1DM patients (49%F, ...

Background: Hepatocyte nuclear factor 1β (HNF1β) is a critical transcription factor that regulates the development of the kidneys, pancreas, liver and genital tract. Patients with deletions and mutations in the HNF1 β gene present with renal and extrarenal manifestations. The most important extrarenal finding is diabetes, also known as MODY5. Although it is generally diagnosed with hyperglycemia, diabetic ketoacidosis is rarely seen.<p class...