Endocrine Abstracts

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 ...

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...

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...