ESPE Abstracts

Introduction: Prohormone convertases are a family of proteins that mediate the processing and activation of peptide hormones and neuropeptide precursors. Homozygous mutations of the PCSK1 gene result in prohormone convertase 1 deficiency that is characterized by diarrhea, hypoglycemia, multiple pituitary hormone deficiency beginning from neonatal period and obesity beginning after infancy.Case: A 35-day-old boy was referred to our hospit...

Up to 10 % of short stature has been estimated to be due to celiac disease. Celiac disease has been considered a rare condition outside of the Western world but recent publications (Singh P et al, Clin Gastroenterol Hepatol 2018 Jun 16 (6): 823-836, Yuan J et al, Clin Gastroenterol Hepatol 2017 Oct;15(10): 1572-1579) have shown that celiac disease is also present in Asians. While Tissue Transglutaminase IgA (tTg-IgA) has been considered to be a sufficiently sensitive test to e...

Case presentation: We report a five -year-old girl who presented for evaluation of obesity, abdominal distension, vaginal bleeding for two days, and abdominal distention. There was no history of local trauma or vaginal discharge associated with the vaginal bleeding and no suspicion of abuse. There was no purpura or bleeding from other sites. Her HtSDS = -1.3 SD and BMI SDS = + 1.5 SD. A large abdominal mass was palpable. There was no hepatomegaly, splenomegaly or lymphadenopat...

Objective: Prader-Willi syndrome (PWS) is a complex genetic disease associated with hypothalamic-pituitary dysfunction, severe obesity and metabolic dysfunctions. The aim of this study was to describe endocrine and metabolic profiles in PWS children and young adults.We also investigated the differences in clinical outcomes according to genotype.Methods: Data of 64 children and adults with genetically verified PWS aged mo...

Background: Van Wyc-Grumbach syndrome is a rare presentation of long standing pre-pubertal hypothyroidism characterized by bilateral multicystic ovaries, vaginal bleeding and delayed skeletal growth in case of female.Case Presentation: we present a clinical course, diagnosis and management of a case of Van Wyc-Grumbach syndrome in a 10-years old Egyptian counselled for recurrent vaginal bleeding and pubertal advancement for age. She was ...

Prader-Willi syndrome (PWS), a multisystem disorder, results of the absence of expression of paternal genes from chromosome 15q11.2-q13; it occurs with the prevalence of 1/10000-1/30000 in different populations. In real clinical practice PWS still remains a challenge for doctors, especially in resource-limited settings. We describe clinical course in 10 pediatric PWS patients (3M; 7F) aged 7,4±3,3 years (1,7÷12,3), all have microdeletion of paternally inherited 15q11....

Background: Multiple Endocrine Neoplasia type 1 (MEN-1) is a rare and underdiagnosed syndrome caused by inactivating mutations of the tumor suppressor gene MEN-1 that predisposes to multiple tumors classically situated in the anterior Pituitary, Parathyroid, and Pancreas. The mutation is transmitted in an autosomal dominant way, and for this reason, the screening of all first-degree relatives is mandatory afte...

Introduction: Fanconi anemia (FA) is a very rare, complex and chronic genetic disorder. The diagnosis is most often made at pediatric age. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for bone marrow failure. FA on its own as well as its treatment can affect the endocrine system. We report the case of a child followed for 12 years after HSCT for FA.Observation: A patient has been followed since the age of...

Cafe au-lait skin macules, Cushing syndrome (CS), hyperthyroidism, liver and cardiac dysfunction have been described as presenting features of neonatal McCune Albright Syndrome (MAS). Despite being defined, neonatal diabetes mellitus due to hypercortisolism is a rare presenting feature. Outcome of patients presenting in neonatal period is usually unfavorable, tthough spontaneous resolution of hypercortisolism have been reported. Newborn girl was born at 38 weeks of gestation v...

Introduction: Graves’ disease is a common etiology of hyperthyroidism. The association of Graves’ disease and idiopathic combined pituitary hormone deficiency (ICPHD) is rare. We report the case of a patient followed for ICPHD who developed Graves’ disease during follow-up.Observation: A 13-year-old patient consults for stature delay. She had a family history of idiopathic hypogonadotropic hypogonadism in a 25-year-old bro...

Introduction: Precocious puberty is a common problem affecting up to 29 per 100,000 girls per year. It is defined as the development of secondary sexual features, at a younger age than the accepted lower limits for age of onset of puberty, namely 8 years in girls and 9.5years in boys. We report the case of a precocious puberty in an 8-year-old and 11months girl with diabetes mellitus type 1 and autoimmune hypothyroidism followed-up in the department of Endocri...

In this case-control study 19 Greek adolescents with Polycystic Ovary Syndrome (PCOS) and 21 non-PCOS controls were assessed for their hormonal, somatometric and autonomic nervous system profile in supine position. The study adhered to the Helsinki Guidelines of Good Clinical Practice. Significant differences were found only in very low frequencies (VLF) (P = 0.008) and Power spectral density RR (PSD) (P < 0.001) between adolescents with PCOS and controls...

Introduction: Type 1 neurofibromatosis (NF1), also called Recklinghausen’s disease, is one of the most common genetic diseases. It is autosomal dominant inherited. Its diagnosis is based on the presence of a familial history of NF1 in a first-degree relative and on the presence of a set of clinical arguments. Endocrine manifestations may exist. The most common are pheochromocytoma and precocious puberty, but other endocrine disorders can be observed more ...