ESPE Abstracts

Objectives: To describe clinical, hormonal and genetic findings of an under-virilized infant male, 13 month old, of afghani origin, presented at the emergency department with salt-wasting adrenal crisis.Case report: The patient, a 13 month old male infant, presented at the emergency department with complaints of vomiting and fever. Physical examination was significant for severe dehydration along with perineal hypospadia...

Introduction: Although vitamin D deficit is the most common cause of rickets there are many rare genetically transmitted forms as hypophosphatemic rickets, a family of hereditary diseases characterized by low phosphorous plasma levels and resistance to 25OH-vitamin D replacement.Case report: This is the case of a 3.6 year-old Italian child sent from the General Pediatrician, for rickets suspicion. Silent personal history...

Background: A one-month-old girl was referred to our unit for osteogenesis imperfecta (OI). She was the first child of non consanguineous parents. The father had no history of fracture. The mother, 28 years-old, presented with a severe OI, short adult height (140 cm), moderate scoliosis. She had more than 20 limb fractures, no vertebral fracture and bowing limbs without need of surgery. She received Bisphosphonates during 3 years until 12 years of age. Then sh...

Insulin resistance and hepato-visceral (central) fat excess are thought to contribute to an earlier timing of adrenarche/pubarche and puberty/menarche; this earlier timing in turn relates often to a mismatch between pre- and postnatal weight gain, which can be estimated by calculating the Z-score change from birth weight (BW) to body mass index (BMI) in childhood. We tested the hypothesis that this calculation may serve as a proxy of insulin resistance and hepato-visceral adip...

We evaluated the final height and the endocrine complications encountered in young adult patients with Thalassemia Intermedia (TI) followed at Hematology Section, Doha (Qatar) in relation to the liver iron content (LIC) in non-transfused versus infrequently transfused TI patients.Patients and Methods: This retrospective cohort study was performed on 28 young adults with TI who were randomly selected from the Hematology clinic, National C...

Introduction: Multiple endocrine neoplasia type 1 is an autosomal illness dominant caused by mutations in the gene menina (MEN1) with high penetrance, characterized by neoplasia parathyroid glands, anterior pituitary, endocrine pancreas and duodenum. Although it has been associated with other types of cancer like breast cancer.Methods and materials: Clinical analysis, mutational and sequencing report Sanger from gene MEN...

Introduction: Excessive androgen secretion from gonads, adrenal gland and tumors arising from germ cells lead to gonadotropin independent precocious puberty in male and virilization in females. Rapid progression of symptoms with peripheral precocity need urgent evaluation to identify the underlying etiology. We report three cases of malignancy with excess androgen secretion within a year in a tertiary care children hospital in Sri Lanka....

Introduction: Bartter syndrome (BS) is a rare genetic renal tubular disorder characterized by hypokalemia, salt-wasting and metabolic alkalosis. Polyuria, polydipsia, hypokalemia and salt loss are responsible for the growth retardation seen in BS. Persistent growth failure despite optimizing medical therapy may be due to growth hormone (GH) deficiency.Case diagnosis and treatment: A 9-year-old girl diagnosed with Bartter...

Background: Pregnancy associated plasma protein (PAPP)-A2 is an insulin-like growth factor (IGF) binding protein (BP) protease that regulates IGF-1 availability, affecting postnatal growth. We have recently reported the first mutations in human PAPP-A2 causing short stature and changes in bone size and mineral density. However, the IGF system is involved in diverse physiological functions and to date it is unknown how mutations in PAPP-A2, which significantly reduce f...

Behavioral studies suggest that brain satiety responses to food consumption are altered in children with obesity. We studied brain regions involved in satiety processing using functional magnetic resonance imaging (fMRI) before and after a test meal. Satiety-related hormonal changes were assessed. Fifty-four 9-11 year-old children with obesity (OB) and 22 children with healthy weight (HW) were studied. Subjects underwent two fMRI scans, one before and one after a test meal, an...