Open AccessBloom’s syndrome with growth hormone deficiency: a rare association
Author(s) -
Madhavi Verpula,
Vijay Sheker Reddy Danda,
Srinivas Rao Paidipally,
Chaitanya Konda
Publication year - 2020
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr-2020-235238
Subject(s) - short stature , medicine , growth hormone deficiency , pediatrics , small for gestational age , growth hormone , dwarfism , bloom syndrome , genetic syndromes , anterior pituitary , growth hormone treatment , gestational age , endocrinology , hormone , pregnancy , biochemistry , chemistry , biology , gene , genetics , helicase , rna
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.