{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T02:02:29Z","timestamp":1789524149259,"version":"build-2803163510"},"reference-count":12,"publisher":"BMJ","issue":"10","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,9,18]]},"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:p>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 \u22126.2 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\u2019s syndrome. The present case report illustrates the need for high vigilance for conditions like Bloom\u2019s syndrome in growth hormone deficiency (GHD), in whom GH treatment could potentially be harmful. Bloom\u2019s syndrome with GHD is an exceedingly rare association.<\/jats:p>","DOI":"10.1136\/bcr-2020-235238","type":"journal-article","created":{"date-parts":[[2020,10,29]],"date-time":"2020-10-29T17:01:02Z","timestamp":1603990862000},"page":"e235238","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Bloom\u2019s syndrome with growth hormone deficiency: a rare association"],"prefix":"10.1136","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7162-1125","authenticated-orcid":false,"given":"Madhavi","family":"Verpula","sequence":"first","affiliation":[{"name":"Endocrinology, Gandhi Medical College and Hospital, Secunderabad, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6189-6005","authenticated-orcid":false,"given":"Vijay Sheker Reddy","family":"Danda","sequence":"additional","affiliation":[{"name":"Endocrinology, Gandhi Medical College and Hospital, Secunderabad, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Srinivas Rao","family":"Paidipally","sequence":"additional","affiliation":[{"name":"Endocrinology, Gandhi Medical College and Hospital, Secunderabad, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaitanya","family":"Konda","sequence":"additional","affiliation":[{"name":"Endocrinology, Gandhi Medical College and Hospital, Secunderabad, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2020,10,29]]},"reference":[{"key":"2025082803434612000_13.10.e235238.1","unstructured":"BS Bloom syndrome Registry, New York, Weill Cornell medical college."},{"key":"2025082803434612000_13.10.e235238.2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90105-1"},{"key":"2025082803434612000_13.10.e235238.3","doi-asserted-by":"publisher","DOI":"10.1159\/000093826"},{"key":"2025082803434612000_13.10.e235238.4","doi-asserted-by":"crossref","first-page":"605","DOI":"10.4103\/ijem.IJEM_199_18","article-title":"Study of pituitary morphometry using MRI in Indian subjects","volume":"22","author":"Singh","year":"2018","journal-title":"Indian J Endocrinol Metab"},{"key":"2025082803434612000_13.10.e235238.5","first-page":"1","article-title":"Bloom syndrome in 7-year-old girl diagnosed with short stature","volume":"91","author":"Borysewicz-Sa\u0144czyk","year":"2019","journal-title":"Horm Res Paediatr"},{"key":"2025082803434612000_13.10.e235238.6","first-page":"145","article-title":"D\u00e9ficit de hormona de crecimiento en u caso de s\u00edndrome de Bloom [Bloom\u2019s syndrome. A case with deficit of growth hormone (author\u2019s transl)]","volume":"12","author":"Iglesias Reymunde","year":"1979","journal-title":"An Esp Pediatr"},{"key":"2025082803434612000_13.10.e235238.7","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-2491"},{"key":"2025082803434612000_13.10.e235238.8","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-2017"},{"key":"2025082803434612000_13.10.e235238.9","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-008-0790-6"},{"key":"2025082803434612000_13.10.e235238.10","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-0656"},{"key":"2025082803434612000_13.10.e235238.11","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1016\/0140-6736(91)93017-4","article-title":"Malignant disease in Bloom's syndrome children treated with growth hormone","volume":"337","author":"Brock","year":"1991","journal-title":"Lancet"},{"key":"2025082803434612000_13.10.e235238.12","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1159\/000182571","article-title":"Leukemia in growth-hormone-treated patients: an update, 1992","volume":"38 Suppl 1","author":"Stahnke","year":"1992","journal-title":"Horm Res"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2020-235238","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T10:43:56Z","timestamp":1756377836000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2020-235238"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10]]},"references-count":12,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2020,10,29]]},"published-print":{"date-parts":[[2020,10]]}},"alternative-id":["10.1136\/bcr-2020-235238"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2020-235238","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10]]}}}