ESPE Abstracts

We present a 13-year old boy, who presented with acute testicular pain. Examination revealed bulky, nodular testicular enlargement. Testicular ultrasound showed multifocal, hyperechoic, calcified masses in both testes, characteristic of large cell calcifying Sertoli cell tumours (LCCSCTs), following which he was referred to endocrinology. He had a history of benign skin tags and a previous chest wall tumour, confirmed as a lipoblastoma on histology. Physical examination showed...

Background: Ectopic ACTH-producing tumors rarely occur in children, with <1% of all adolescents with Cushing Syndrome (CS). Many cases of ACTH-secreting ectopic neuroendocrine tumors (NETs) are reported in literature. In most patients, tumors secrete corticotropin-like peptides and/or corticotropin releasing factor (CRF)-like peptide, which stimulate cortisol hyperproduction.Background: Ectopic ACTH-producing tumors r...

Introduction: Craniopharyngioma (CP) is a histologically benign rare tumor from the sellar and parasellar region. Its invasion into adjacent structures, namely optic nerve and hypothalamic-pituitary axis brings significant morbidity and warrants surgical treatment. Hypothalamic Syndrome (HS) can occur in different conditions affecting this structure, comprising a cluster of symptoms like pituitary dysfunction, obesity, temperature dysregulation, sleep disturba...

Dysosteosclerosis (DOS) is a rare form of dense bone disease and, short stature, recurrent fractures, optic atrophy, cranial nerve palsy, developmental delay, flattened fingernails, skin related complications, and failure of tooth eruption are the characteristic features of the disease (MIM %224300). Irregular osteosclerosis, flattened diffusely dense vertebral bodies, sclerotic skull, radiolucent sub-metaphyseal portions of the long tubular bones with sclerotic diaphysis are ...

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...

Introduction: Kisspeptin is a neuropeptide, encoded by the KISS1 gene, which acts upstream of gonadotropin-releasing hormone (GnRH) neurons and also has a critical role for maturation and function of the reproductive axis. Inactivating mutations of its receptor (KISS1R) cause normosmic isolated hypogonadotropic hypogonadism (IHH). In this report, we aim to present three siblings who have IHH due to novel compound heterozygous KISS1R mutation.Cas...

Background: Present knowledge on the effects of growth hormone (GH) on aging and lifespan are controversial. Clinical data indicate that normal or high levels of GH may accelerate aging and increase the risk of cardio-vascular diseases. Very small embryonic-like stem cells (VSELs) are a population of developmentally early stem cells residing in adult tissues, which could have the potential role in aging and organ rejuvenation.Objective: The aim of the st...

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...