{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:02:20Z","timestamp":1756339340649,"version":"3.44.0"},"reference-count":13,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,10,30]]},"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:p>A male infant was brought to our paediatric endocrine unit with typical clinical features of congenital hypothyroidism (CH) and striking macro-orchidism. On evaluation, free T3, free T4 and thyroid stimulating hormone (TSH) were found to be low, suggestive of congenital CH. Cortisol was within reference range and prolactin was mildly elevated. No suspicious lesions were encountered on neurosonography. On commencing treatment with thyroxine, clinical features of hypothyroidism showed dramatic improvement with regression of testicular enlargement. Genetic analysis revealed deletion of the <jats:italic>TSH\u03b2<\/jats:italic> gene.<\/jats:p>\n               <jats:p>Our case highlights a rare presentation of central CH with macro-orchidism in a genetically proven deletion of <jats:italic>TSH\u03b2<\/jats:italic> gene. Macro-orchidism has been widely reported in <jats:italic>IGSF-1<\/jats:italic> mutations leading to central CH; however, central CH and macro-orchidism have not been reported in association with <jats:italic>TSH\u03b2<\/jats:italic> deletions.<\/jats:p>","DOI":"10.1136\/bcr-2022-252796","type":"journal-article","created":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T12:05:39Z","timestamp":1699963539000},"page":"e252796","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Rare case of central congenital hypothyroidism due to a <i>TSH\u03b2<\/i> mutation presenting with macro-orchidism"],"prefix":"10.1136","volume":"16","author":[{"given":"Madhura Bharat","family":"Karguppikar","sequence":"first","affiliation":[{"name":"Paediatric Endocrinology, Hirabai Cowasji Jehangir Medical Research Institute, Pune, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia","family":"Schoenmakers","sequence":"additional","affiliation":[{"name":"Wellcome Trust-Medical Research Council Institute of Metabolic Science, University of Cambridge Metabolic Research Laboratories, Addenbrooke's Hospital, University of Cambridge, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vaman","family":"Khadilkar","sequence":"additional","affiliation":[{"name":"Growth and Endocrine Unit, Hirabai Cowasji Jehangir Medical Research Institute, Pune, India"},{"name":"Interdisciplinary School of Health Sciences, Savitribai Phule Pune University, Pune, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9832-7033","authenticated-orcid":false,"given":"Anuradha","family":"Khadilkar","sequence":"additional","affiliation":[{"name":"Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, 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