Hypothalamic growth hormone deficiency in a patient with ring chromosome 18

We report on a boy with a ring 18 chromosome associated with hypothalamic growth hormone (GH) deficiency. A 12-month trial of GH replacement therapy (0.5 U/kg/week) resulted in a marked growth acceleration. Our findings emphasise the need of evaluating GH secretion in patients with abnormalities of...

Full description

Saved in:

Bibliographic Details
Published in:	European journal of pediatrics Vol. 153; no. 2; pp. 110 - 112
Main Authors:	MELONI, A, BOCCONE, L, ANGIUS, L, LOCHE, S, FALCHI, A. M, CAO, A
Format:	Journal Article
Language:	English
Published:	Heidelberg Springer 01-02-1994 Berlin
Subjects:	Abnormalities, Multiple - genetics Biological and medical sciences Chromosome aberrations Chromosomes, Human, Pair 18 Growth Hormone - deficiency Humans Infant Karyotyping Male Medical genetics Medical sciences Ring Chromosomes Chromosomal aberration Human Endocrinopathy Deficiency STH Peptide hormone Abnormal E18 chromosome Hypothalamic hormone Case study Protein hormone Phenotype Adenohypophyseal hormone Ring chromosome Etiology Abnormal chromosome Hormone releasing factor Child STH-RH
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	We report on a boy with a ring 18 chromosome associated with hypothalamic growth hormone (GH) deficiency. A 12-month trial of GH replacement therapy (0.5 U/kg/week) resulted in a marked growth acceleration. Our findings emphasise the need of evaluating GH secretion in patients with abnormalities of the 18 chromosome.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0340-6199 1432-1076
DOI:	10.1007/BF01959220