Endocrine Abstracts

Introduction: In spite of great progress in Endocrinology, even today Klinefelter’s syndrome remains an under diagnosed or late diagnosed chromosomal disorder as is evident from the three case reports below.Case 1: A 79 years old man admitted with exacerbation of COPD, was noted to have bilateral Gynaecomastia, feminine features, very small scrotum without testes and a small penis. Throughout his life he remained isolated and single. Scrotal ultraso...

Background: Infants born small for gestational age (SGA) usually show catch up growth within the first few years of life. However in the UK ~1500 SGA children each year remain small, with no clear endocrine cause with rare genetic syndromes accounting for only a minority of cases. In order to define growth factor activation in these children we have initiated an assessment of cell growth and signalling in response to GH and IGF1 in fibroblast cell lines....

Background: The aetiology of delayed puberty in children with inflammatory bowel disease (IBD) is unclear.Methods: Retrospective analysis of 27 children with IBD with growth retardation and/or pubertal delay, who had basal LH and FSH (27) and LHRH stimulation test as part of clinical evaluation (25). Height velocity was converted to SDS for bone age for girls >11 years and boys >12 years to adjust for delayed puberty. Data expressed as median (ra...

Familial isolated growth hormone deficiency is exceedingly rare. We present two siblings of non-consanguineous parents with this syndrome and describe their response to growth hormone therapy. We have also carried out a mutational analysis of their GH1 and GHRH-R genes.A mutation scan of the entire coding region and flanking intronic sequences of GH-1 and GHRH-R was undertaken in both index cases and parents. GH1 and GHRH-R mu...

Background: Whilst puberty is understood to be commonly effected in adolescents with Crohn’s disease (CD) and ulcerative colitis (UC), the extent of this effect as well as related problems with growth have rarely been quantified.Objective: To determine the impact of CD and UC on Size, Tempo and Velocity of the growth spurt.Methods: Retrospective study of 142 children with IBD (case notes available, 68) who fulfilled the criter...

P450 oxidoreductase (POR) transfers electrons to all microsomal P450 enzymes including CYP21A2 and CYP17A1, key enzymes of glucocorticoid and andogen synthesis, respectively. Mutant POR results P450 oxidoreductase deficiency (ORD) manifesting with glucocorticoid deficiency and disordered sex development in both sexes. Neonatal presentation with undervirilisation in boys and virilisation in girls is well described. However, there is a paucity of data on the pubertal phenotype i...

Background: 3-M syndrome is an autosomal recessive disorder characterized by pre- and post-natal growth restriction, normal intelligence and dysmorphic facial features. Mutations in the genes encoding Cullin 7 (CUL7) and Obscurin like-1 (OBSL1) have been shown to cause 3-M syndrome.Aims: To characterize CUL7 production and localization in a primary fibroblast cell line from a patient with 3-M syndrome due to a CUL7 mutation and to assess cell prol...

Glial cells missing B (GCMB), which is the mammalian homologue of the Drosophila GCM gene, encodes a 506 amino acid parathyroid-specific transcription factor that contains: a DNA-binding domain (residues 21–174); a predicted nuclear localization signal (residues 176–193); an inhibitory domain (residues 258–347); and two transactivation domains (residues 174–263, and residues 428–506). To date only two different GCMB m...