ESPE Abstracts

Background: Maternal ovarian luteoma is a rare condition that may cause virilization of female fetuses.Case presentation: We present the case of a baby born at 29 weeks gestational age to a 20 yo mother with history of two spontaneous abortions and no live births. Physical exam after birth revealed ambiguous genitalia, with a stretched phallic length of 1 cm with hypospadias on the ventral surface of phallus and complete fusion of rugated labioscrotal fo...

Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked and multisystem disorder with clinical symptoms of congenital cataracts, severe mental retardation, hypotonia, areflexia, and incomplete Fanconi syndrome of the proximal renal tubules. We report a 15-year-old short stature male with a severe form of OCRL syndrome, diagnosed based on bilateral congenital cataract, proteinuria, tubulopathy, and dysmorphic findings. The physical examination revealed a height of 152 cm (-2.7...

Introduction: Single-electrolyte derangement is a common biochemical finding. Multiple-electrolytes derangement is less common and require multiple and simultaneous corrective therapies. We present a patient who had multiple admissions with multiple-electrolytes derangement, which after further evaluation required a single therapeutic intervention.Case: A 26-year-old lady had eight admissions over three years with abdominal pain and vomiting. During each...

Autoimmune polyglandular syndrome (APS), on the other hand, is a cluster of endocrine disorders resulting from immune dysregulation, often accompanied by damage to non-endocrine organs. There are 2 types of APS: type 1 and type 2 (APS-1 and APS-2). Type 2 APS is characterized by the development of organ- and tissue-specific antibodies. In those with Addison's disease, antibodies to the 21-hydroxylase enzyme found in the adrenal cortex are present in more than 90% of patie...

Objective: Studies contain evidence that anemia in diabetic patients may lead to the development of microvascular and macrovascular complications by causing hypoxia and oxidative stress in peripheral tissues. In this study, we aimed to determine the frequency and risk factors of anemia in children with type 1 DM.Material and Methods: The study group included 82 children with Type 1 DM aged between 1 and 18 years with dis...

Objective: Our goal was to identify the etiological distribution of our hypoglycemia-diagnosed patients, who presented to pediatric clinics with a variety of symptoms.Materials and Methods: We conducted the study by retrospectively examining recoded data from patients who applied to pediatric emergency services, pediatric outpatient clinics, pediatric metabolism, and endocrinology outpatient clinics between 2015 and 2021...

Background: GnRHa therapy is shown to be beneficial in increasing final height when started before 6 years of age in girls with idiopathic CPP(iCPP). However controversial data exist in improvement of final height whose pubertal signs appear after age of 6.Aim: To investigate effect of age of onset of GnRHa therapy on final height n girls with iCPP, and to evaluate factors affecting height gain.<st...

Background: Studies investigating effects of GnRHa therapy on body weight (BW) and BMI in subjects with CPP are generally including short term effects.Aim: To investigate changes in BMI at the beginning, during and two years after completion of GnRHa therapy to determine influential factors in girls with idiopathic CPP.Methods: Data of 138 girls who completed GnRHa therapy for iCPP...

Background: Organic lesions are present in 5-10% of cases with CPP. Determinants of an increased risk for organic pathology underlying CPP in girls are debatable. CNS imaging is recommended for girls who have pubertal signs before 6 years of age. Although neurological findings may suggest organic pathology, other clinical features and hormonal variables have not been adequately examined.Aim: To analyze clinical&h...

Background: Neurofibromatosis-Noonan Syndrome (NFNS) is a distinct entity which has variable features of both neurofibromatosis 1 (NF1) and Noonan syndrome (NS). In majority of cases NF1 mutations have been demonstrated. Short stature is one of the major causes for these patients requiring medical attention. GH deficiency (GHD) may accompany in some cases with NF1 or NS cases, however there are rare case reports on NFNS receiving GH therapy.Objective and...