ESPE Abstracts

Methods: We performed an electronic search in PubMed, Google Scholar, and Web of Sciences to evaluate the global prevalence of growth hormone impairment and different endocrinopathies in SCD in all publications in the past 25 years.Results: Sixteen studies were included from 9 countries (USA, Canada, UK, Brazil, Jamaica, Egypt, Turkey, Saudi Arabia, and Bahrain) after 2000. The total number of patients was 1286. Most pat...

Background: Multiple Endocrine Neoplasia Type 1 (MEN1) is an autosomally transmitted hyperplastic or neoplastic disorders of some endocrine and non-endocrine organs. Pituiatry tumors develop in 30–70% of patients with MEN1. Mean age at onset of MEN1 associated pituitary tumors is the 4th decade and its occurence before and during puberty is very rare. Although there are two case reports about MEN1 and delay puberty, early and rapidly progressive puberty with MEN1 has no r...

Background: Vitamin D has a key physiological role in many metabolic process and neuromuscular activities. The peak bone mass accrual occurred during adolescence, where about 51% of bone mass is gained during puberty and about 37% of the bone mineral density (BMD) of adults is reached. Vitamin D deficiency has long-term negative implications including increased risk of osteomalacia and osteoporosis. Severe hypovitaminosis D appears to be most common in the Mid...

Background: HSH is a rare condition, first described by Paunier et al. (1968). It is an autosomal recessive disorder arising from impaired intestinal absorption of magnesium (Mg) together with renal Mg loss due to a re-absorption defect in the distal convoluted tubule. Mutations in the TRPM6 gene (Chr9q21) (OMIM #607009) have been identified as the underlying genetic defect. A review of 28 affected individuals (21 families) showed median age of diagnosis of 2 months, ...

Background: Vitamin D is now recognised as a prohormone, essential for the maintenance of mineral homeostasis, calcium metabolism and normal skeletal architecture. 30 ng/ml or greater can be considered sufficient serum levels. The prevalence of vitamin D deficiency among severely obese children is almost 49% caused by the fact that it is sequestered in the larger body pool of fat of such individuals, being vitamin D fat soluble. Vitamin D deficiency has been recently associate...

Introduction: Kenny-Caffey syndrome is a rare syndrome which is a primary bone dysplasia syndrome consisting of growth retardation with proportionately short stature, cortical thickening and medullary stenosis of the long bones, hypocalcemia from congenital hypoparathyroidism, and facial dysmorphism such as a prominent forehead, microphthalmia, and micrognathia. We report 13 years old with Kenny caffe syndrome who found to have a family history of the same pre...

Background: Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a are autosomal recessive disorder which presents in early infancy with generalized convulsions, or other symptoms related to increased neuromuscular excitability. Several mutations in the TRPM6 gene have been described. Early diagnosis is an effective means of preventing the inevitable neurocognitive sequelae which occur in the absence of appropriate treatment.<s...

Background: Vitamin D Dependent Rickets Type IA (VDDR-IA) is the most common type of VDDR and caused by mutations in CYP27B1. Here, we aimed to analyze the genotypic and phenotypic features of our VDDR-IA patients.Materials and Methods: The patients with a clinical diagnosis of VDDR-IA were enrolled and analyzed for CYP27B1 gene mutations.Results: 12 (5 males) pat...

Introduction: VDDR II is an autosomal recessive disorder caused by a defect in the vitamin D receptor gene located on chromosome 12q12–q14. Thus far, 13 mutations have been identified. It is characterized by hypocalcemia, secondary hyperparathyroidism, and early onset severe rickets. Here we report a case of a severe form of rickets associated with alopecia.The Case: This 23-month-old boy was born at term to consang...

TN was seen in India aged 7 years by her GP, with concerns about tall stature and increase in belly fat. She had a family history of diabetes, high cholesterol and early deaths. Her mother has diabetes, a round face and prominent limb musculature with very little subcutaneous fat. TN was investigated by a paediatric endocrinologist in India. Tests showed high triglycerides and insulin levels at the upper level of normal for her age. She was put on a strict diet and exercise pr...