Bloom's syndrome with growth hormone deficiency: a rare association. Issue 10 (29th October 2020)

• Record Type: Journal Article
• Authors: Verpula, Madhavi; Danda, Vijay Sheker Reddy; Paidipally, Srinivas Rao; Konda, Chaitanya
• Is Part Of: BMJ case reports. Volume 13:Issue 10(2020)
• Publication Date: 2020-10-29
• Subjects: pituitary disorders -- failure to thrive -- congenital disorders -- paediatric oncology; Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2020-235238
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : We report a case of a 5-year-old boy presenting to us with short stature. He was born of consanguineous parentage and was small for gestational age. He had severe short stature, with height Z score of −6.2 SD Score, markedly delayed skeletal age, low level of insulin-like growth factor 1, unstimulated growth hormone and hypoplastic anterior pituitary gland on MRI. He was advised growth hormone (GH) replacement at 2 years of age, but he did not receive it . Later on, he developed photosensitive telangiectatic lesions over face and required multiple hospital admissions for recurrent systemic infections. Genetic analysis confirmed the diagnosis of Bloom's syndrome. The present case report illustrates the need for high vigilance for conditions like Bloom's syndrome in growth hormone deficiency (GHD), in whom GH treatment could potentially be harmful. Bloom's syndrome with GHD is an exceedingly rare association.