ESPE Abstracts

Background: Childhood IGCT are rare, malignant tumours of the pituitary stalk and pineal region, highly curable (>90%) by multimodal therapies. Neuroendocrine outcomes are thus important. Deficits increase over time but, without longitudinal studies, it remains unclear whether they are primarily disease or treatment related.Objective and hypotheses: To determine, by longitudinal retrospective analysis in survivors, tumour- and treatment-related facto...

Introduction: Disorder of sex development (DSD) is a challenging condition confronting the patients, their relatives and the clinicians. It is more challenging when this disorder is associated with other extra-genital malformations. This makes their overall management more complex than if they just had DSD. Moreover, some of them have disturbed testicular function.Aim of the work: this work aimed at clinical review of 9 ...

Background: Topical steroids are commonly used in clinical practice for management of dermatological diseases. Clobetasol propionate is the most potent. They are systemically absorbed and may cause adverse side effects due to improper and prolonged use, such as iatrogenic Cushing's syndrome and adrenal insufficiency due to suppression of hypothalamic-pituitary-adrenal axis.Case presentation: A 7-month-old boy referre...

Introduction: Aldosterone synthase deficiency (ASD), also known as Corticosterone methyloxidase deficiency, is a rare autosomal recessive disorder characterized by severe hyperkalemia, salt loss, vomiting, severe dehydration and failure to thrive. It is caused by inactivating mutations of the CYP11B2 gene. We herein report the first confirmed Egyptian infant who had clinical and hormonal features of aldosterone synthase deficiency. Unexpectedly, our p...

Background: Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive disorder, due to mutations in the leukemia inhibitory factor receptor (LIFR) gene. It is characterized by bowed-long bones, joint restrictions, dysautonomia, respiratory and feeding difficulties leading to death during infancy. In SWS survivors beyond 2 years of age, orthopedic problems are the main concern e.g. spinal deformations, osteoporosis and recurrent spontaneous fra...

The obesity epidemic continues to be a dramatic problem in the developed world despite attempts to curtail its rise. Reducing energy intake and/or increasing energy expenditure can result in weight loss; however, if one returns to their poor lifestyle habits the previous weight is not only recuperated, but often surpassed.We hypothesized that although a normal body weight may be achieved, the hypothalamic circuits controlling appetite and energy expendit...

Background: Functioning gonadotroph adenomas (FGAs) are very rare gonadotropin-secreting pituitary adenomas. Clinically, FGAs present only with mass effects. Nevertheless, central precocious puberty (CPP) has also been reported. Published data have demonstrated controversial opinions on the use of GnRH agonists in these patients, considering the risk of increase in tumor size and stimulating gonadotropin secretion. We herein report 3 cases diagnosed with CPP d...

Introduction: Central precocious puberty (CPP) refers to the development of secondary sex characteristics before ages 8 and 9 years in girls and boys, respectively. It is either due to organic brain lesion or idiopathic. Conventionally, Gonadotropin Releasing Hormone (GnRH) stimulation test is a mainstay tool for diagnosis of central precocious puberty in pediatrics. However, it is time consuming and expensive. Therefore, this study was aiming to find an alter...

Background: Ectodermal dysplasia is considered as an inherited multi-systemic disorder affecting tissues derived from ectoderm (skin, hair, teeth, nails and sweat glands). There are many genes involved in genetic background of this disorder with variable modes of inheritance. The thrombospondin-type laminin G domain and epilepsy- associated repeats (TSPEAR) gene have been found in some patients with this disorder with interesting variable phenotypic spectrum. ...

Objectives: To test whether Gabra5 in POMC neurons regulates energy balance and glucose metabolism in sexually dimorphic fashion.Methods: POMC-Cre mice received stereotaxic injections of AAV-FLEX-scCAS9 and AAV-FLEX-Gabra5-sgRNA-tdTOMATO into ARH to generate pomc-Gabra5 KO mice. Both male and female mice were fed on regular chow diet or HFD. Food intake, body weight and anal temperature were measured every 4 days. Fat/le...