Searchable abstracts of presentations at key conferences in endocrinology

ea0017p34 | (1) | BSPED2008

Hereditary vitamin D resistant rickets (HVDRR), diagnostic and therapeutic challenges

Ali K , Allgrove J , Ryan F

Case history: A 2 year old Pakistani boy born of consanguineous parents was referred for a dermatological opinion as he had total alopecia. He was born with a full crop of hair, which was shaved at 7 days of age as per religious custom and had not grown back. His motor milestones were delayed such that he started crawling at 14 months and was unable to walk independently. His weight was on the 0.4th centile and his height (72 cm) was far below the 0.4th centile. His anterior f...

ea0017p32 | (1) | BSPED2008

TRIAC and carbimazole combination therapy in pituitary thyroid hormone resistance

Ali K , Culley V , Morovat R , Ryan F , Edge J

We present a difficult case of pituitary thyroid hormone resistance (PTHR) in a 6 year old girl. She presented at the age of 22 months with chronic cough, diarrhoea, failure to gain weight and gross motor delay. She was also noted to be hyperactive and clumsy with poor co-ordination. Persistent tachycardia was present on examination. Thyroid function tests revealed increased thyroid hormone concentrations with a free T4 of 63.7 pmol/l (9–25) and a free T3 of 20 pmol/l (3....