{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T06:40:14Z","timestamp":1756276814591,"version":"3.44.0"},"reference-count":17,"publisher":"BMJ","issue":"10","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,10,4]]},"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:p>Endogenous Cushing\u2019s syndrome (CS) is rare in infancy. Bilateral micronodular adrenocortical disease (BMAD), either primary pigmented nodular adrenocortical disease or the non-pigmented isolated micronodular adrenocortical disease is an important aetiology of CS in this age group, which requires bilateral adrenalectomy for cure. BMAD may be isolated, or a component of Carney complex. Isolated sporadic BMAD without other systemic manifestations poses a diagnostic challenge. Paradoxical cortisol response to dexamethasone suggests, while adrenal histopathology and mutational analysis of the culprit genes confirm BMAD. BMAD was suspected in 6-year-old infant with midnormal adrenocorticotrophic hormone, inconclusive adrenal and pituitary imaging and paradoxical increase in cortisol following high dose of dexamethasone. Exome sequencing revealed heterozygous c.354+1G&gt;C (5\u2032 splice site) variant in the myosin heavy chain gene (MYH8), located in chromosome 17. This particular variant has not been reported in the literature. In view of suspected phenotype and its absence in the population databases, the variant was classified as pathogenic.<\/jats:p>","DOI":"10.1136\/bcr-2020-236850","type":"journal-article","created":{"date-parts":[[2020,10,27]],"date-time":"2020-10-27T17:05:41Z","timestamp":1603818341000},"page":"e236850","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Cushing\u2019s syndrome in early infancy due to isolated sporadic bilateral micronodular adrenocortical disease associated with myosin heavy chain 8 mutation: diagnostic challenges, too many!"],"prefix":"10.1136","volume":"13","author":[{"given":"Sananda","family":"Majumder","sequence":"first","affiliation":[{"name":"Paediatrics, Midnapore Medical College and Hospital, Midnapore, West Bengal, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3316-4525","authenticated-orcid":false,"given":"Partha Pratim","family":"Chakraborty","sequence":"additional","affiliation":[{"name":"Endocrinology and Metabolism, Medical College and Hospital Kolkata, Kolkata, West Bengal, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prakash Chandra","family":"Ghosh","sequence":"additional","affiliation":[{"name":"Paediatrics, Midnapore Medical College and Hospital, Midnapore, West Bengal, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitali","family":"Bera","sequence":"additional","affiliation":[{"name":"Paediatrics, Midnapore Medical College and Hospital, Midnapore, West Bengal, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2020,10,27]]},"reference":[{"key":"2025082623083869000_13.10.e236850.1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-198507000-00007"},{"key":"2025082623083869000_13.10.e236850.2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-020592"},{"key":"2025082623083869000_13.10.e236850.3","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1310359"},{"key":"2025082623083869000_13.10.e236850.4","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa040584"},{"key":"2025082623083869000_13.10.e236850.5","doi-asserted-by":"crossref","unstructured":"Miller WL , Fluck CE . 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