ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2016) 45 P71 | DOI: 10.1530/endoabs.45.P71

Thyrotoxicosis: A rare paediatric endocrine manifestation of chromosome 2q37 deletion

Ignatius Losa & Nosheen Aman

East Cheshire NHS Trust, Macclesfield, UK.

Albright hereditary osteodystrophy-like (AHO-like) syndrome is a rare syndrome characterized by features including distinctive dysmorphism, developmental delay and short stature. The 2q37 locus is the commonly deleted subtelomeric region. Individuals may have either pseudohypoparathyroidism (PHP), with end organ resistance to PTH and certain other cAMP dependent hormones, or pseudopseudohypoparathyroidism (PPHP) with normal hormone responsiveness.

Autoimmune thyrotoxicosis has previously not been described in paediatric patients.

Patients with chromosome 2q37 deletion presenting with tiredness should undergo thyroid screening.

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