ESPE Abstracts

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: Bone morphogenetic protein 15 (BMP15), is an oocyte-specific growth factor, that regulates folliculogenesis and ovulation rate. It is encoded by the BMP15 gene (chromosome Xp11.2), in which heterozygous missense variants in the precursor or mature peptide cause primary ovarian insufficiency (POI) with the dominant-negative effect. BMP15-related ovarian dysgenesis (OD) constitutes 1.5-2.0% of POI. The underlying mechanism ...

Objectives: Proopiomelanocortin (POMC) is the polypeptide precursor of several peptides including adrenocorticotropic hormone (ACTH), melanocyte stimulating hormone (MSH) and β-endorphin. POMC deficiency is a very rare disease characterized by adrenal insufficiency, early-onset obesity, and pigmentation abnormalities. Here we describe an 18 month old boy with central adrenal insufficiency, hypothyroidism, obesity and fair skin. Genetic analysis revealed a homozygous p.G99...

Background: Anti-Mullerian hormone (AMH), secreted by immature Sertoli cells, provokes the regression of male fetal Mullerian ducts. Loss of function mutations in genes coding AMH (AMH) or its receptor (AMHRII) lead to the persistent Mullerian duct syndrome (PMDS) which is characterized by the presence of uterus, fallopian tubes, cervix and vagina in otherwise normally virilized 46,XY males. Typical clinical features along with plasma AMH levels and genotypin...

Itroduction: Thiamine responsive anemia (TRMA) known as Rogers syndrome; is an early-onset, autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Diabetes in this condition is well described in infancy but has only very rarely been reported in association with neonatal diabetes.Case: 3-months old male patient with neonatal diabetes was admitted to our outpatient clinic because of uncontrolled hy...

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...