ESPE Abstracts

Background: The growth pattern of normal children was inappropriately used to evaluate those who with DSD.Objective: To understand growth and development of the 46, XY disorders of sex development (DSD) children, drawing height, weight and BMI curve of children with 46, XY DSD at the age of 0–16.Method: The registration database was used in this study. Non- CAH 0-16 years old 46, XY DSDs were collected. Growth curves were fitt...

Background: In 2003 recombinant human growth hormone (rhGH) was approved by European Medicines Agency to treat short children born small for gestational age (SGA), but so far no study evaluated the prevalence of SGA children with short stature who qualify for rhGH treatment in Europe.Objectives: To investigate the prevalence of SGA and short stature in children born SGA and of SGA children who qualify for rhGH treatment ...

Background: Children with neurofibromatosis type 1 (NF1) have an increased risk of developing optic pathway gliomas (OPGs) during childhood. Although these tumors usually have a benign course, some cases result in significant clinical symptoms, including endocrinological disorders.Objective and hypotheses: The aim of this study is to evaluate the endocrinological complications of OPGs involving the chiasm in children with NF1.Metho...

Background: Gorham-Stout syndrome (GSD) is a rare disorder characterized by lymphangiomatosis, osteolysis and potentially lethal in the presence of chilothorax.Objective and hypotheses: As the management of GSD is not univocal and outcomes are unpredictable we build a multifaced protocol in order to study its natural history, biomarkers of bone disease and to treat uniformly patients.Method: Seven patients (five males, two females,...

Primary hyperparathyroidism is a condition characterized by one or more hyperfunctioning parathyroids leading to hypercalcemia and inappropriately normal or elevated levels of parathyroid hormone (PTH). Clinically it can occur asymptomatically or manifests with osteopenia, increased risk of pathological fractures, nephrolithiasis, gastrointestinal symptoms (vomiting, constipation, abdominal pain) or asthenia. We report the case of A.L.M, a 15-year-old female who went to the Em...

Introduction: Septo-optic dysplasia (SOD) is an uncommon, highly heterogeneous entity of multifactorial etiology, consisting in the association of 2 or more of the following characteristics: ophthalmological abnormalities [most frequently optic nerve hypoplasia (ONH)], midline brain abnormalities [such as aplasia/hypoplasia of the septum pellucidum (SP) and/or corpus callosum (CC)] and variable degree of hypotalamo-pituitary insufficiency (HPI)<p class="ab...

Wolf-Hirschhorn syndrome is a genomic disorder caused by 4p16.3 deletion with facial dysmorphology, growth retardation, developmental/intellectual delay and seizures. After 165 kb critical region encompassing NSD2 was identified, most recently, three NSD2 loss of function variants was uncovered in patients with overlapping phenotype with Wolf-Hirschhorn syndrome. In our study, a NSD2 variant, c.1577dupG (p.Asn527fs*14) was identified in two patie...

Objective and hypotheses: The purpose of this research is to establish reference intervals for the steroid hormones of 6 to14 year-old normal male children using LC-MS method; study the variation pattern of steroid hormones in terms of different ages and Tanner stages of puberty.Method: A total of 1175 male children from 6 to 14 years old from Shunyi District, Beijing, have participated in this research, with 820 children determined as normal-weight. Pre...

Background: Bartter syndrome (BS) and Gitelman syndrome (GS) have similar clinical manifestations. It’s hard to be distinguished by the symptoms and laboratory, even though the genetic analysis cannot identify them precisely. The precise diagnoses associate with the right treatment and prognosis. Hypercalciuria usually involved with neonate type Bartter syndrome, and hypomagnesemia with Gitelman syndrome.Objective a...

Background: SRS is a typical epigenetic disease. Approximately 40% of patients can not be detected genetic and epigenetic disturbances.Objective and hypotheses: To analysis whether there is unknown genes or imprinted genes associated with pathogenicity of SRS and to detect the fine mapping SRS hypomethylation position through the Illumina Methylation 450K chip to detect genome-wide methylation differences.Method: To detect genome-w...