Endocrine Abstracts

Background: Congenital Hyperinsulinism (CH) or, as previously named, Hyperinsulinemic Hypoglycemia (HH), constitutes a major cause of persistent and recurrent hypoglycemia, especially in the neonatal period, showing notable phenotypical heterogeneity among affected subjects. Mutations in genes implicated in insulin release, represent the majority of the cases of CH. Activating mutations of the Glucokinase gene (GCK) are responsible for mild forms of hypoglycemia usual...

Background: Increased fibrinogen levels have been reported in prepubertal children and adolescents with growth hormone deficiency (GHD), which were reduced after rhGH treatment. rhGH treatment has also been shown to exert a beneficial effect on the amount of aPAI-1 in children with GHD.Aim: Of the study was to evaluate whether prepubertal GH deficient (GHD) children showed any impairment in coagulation- and fibrinolysis-related parameters and the effect ...

Background: Increased fibrinogen levels have been reported in prepubertal children and adolescents with growth hormone deficiency (GHD), which were reduced after rhGH treatment. rhGH treatment has also been shown to exert a beneficial effect on the amount of aPAI-1 in children with GHD. Aim of the study was to evaluate whether prepubertal GH deficient (GHD) children showed any impairment in coagulation- and fibrinolysis-related parameters and the effect of GH therapy on these ...

Introduction: Across different chronic diseases, it has been shown that problem focused coping is associated with better adjustment. The aim of the study was to evaluate the various coping behaviors of children and adolescents with type 1 diabetes (T1DM) and their association with metabolic control and duration of disease.Methods: The study population consisted of 65 children and adolescents with T1DM (male/female: 22/43) with a mean (±S.D.</...

Aim: To evaluate whether anthropometric indices and acanthosis nigricans can be useful markers for early detection of Insulin Resistance and Metabolic Syndrome (MetS) in overweight and obese children.Methods: Data from 510 prepubertal children (40% boys), 12.9% overweight and 87.1% obese with mean age 9.7±2.5 years were analyzed. Logistic regression analysis was used to investigate which factors were associated with HOMA-IR >3 and metabolic synd...

Aim: To describe the clinical course of an adolescent girl with gigantism.Background and methodsIn young persons with open epiphyses, overproduction of GH results in gigantism, with consequent longitudinal growth acceleration1. Pituitary gigantism is extremely rare, and its cause in the majority of patients is a pituitary adenoma1. Here, we present a 12, 5 years-old girl investigated for tall stature [183.5&#1...

Background: CHARGE is an autosomal-dominant syndrome which includes a variable combination of ocular coloboma, heart defects, atresia of the choanae, retardation of growth and development, and genitourinary and ear abnormalities CHARGE syndrome has rarely been associated with anterior pituitary dysfunction and with structural abnormalities of the pituitary gland only twice. We report the case of a child with CHARGE association and congenital hypopituitarism due to structural a...

In true precocious puberty, the increased gonadal steroid secretion increases height velocity, somatic and psychosocial development, and the rate of skeletal maturation and can lead to short adult height. The aim is to assess the impact of suppression therapy of CPP with triptorelin on final adult height and the timing of menarche and pattern of menstrual cycle post-treatment.Materials and methods: Nineteen girls, with CPP, which had completed at least t...

Aim: To assess factors affecting HV during triptorelin suppression treatment for CPP.Materials and methods: Forty-six girls with CPP, with mean age at diagnosis 8.4 yrs who presented with signs and symptoms of puberty before the age of 8 years and were treated with triptorelin for at least 2 years, were studied. All girls were categorized into three groups according to the difference between bone age (BA) and chronological age (ΔBA-CA): group I with...

Hypophosphatasia (HPP) is a rare inherited disorder caused by loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. HPP B is a multisystemic B disorder with a predominantly B skeletal phenotype, with a clinical spectrum ranging from high lethality in early onset (<6 months) HPP to mild late-onset presentations. HPP skeletal disease in utero was thought to predict a lethal outcome. However a benign prenatal form (PB HPP) with a mild postna...