Endocrine Abstracts

Cellular sensitivity to circulating glucocorticoids is critical and is principally determined by the level of glucocorticoid receptor (GR). GR expression is most potently regulated by glucocorticoids themselves, although the mechanism is unknown. The rat GR gene encodes at least eleven alternate and untranslated exons 1, eight of which lie in a 3kb CpG island close to exon 2. We have recently shown that individual exons 1 are subject to tissue specific expression and regulatio...

Case history: Two unrelated male patients were referred for evaluation of short stature. The first patient aged 16.5 years, had a birth weight of 2.6 kg at term (BWSDS -2.4), height 153 cm (HSDS -3.2) at referral and normal BMI SDS of 0.6. He had early postnatal hypoglycemia, which was conservatively managed, but no other significant clinical history. He had relative macrocephaly and disproportionate short stature. His mother was also short with a similar phenotype (height 147...