{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T20:01:27Z","timestamp":1787169687052,"version":"build-2736575974"},"reference-count":11,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,12,26]]},"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:p>\n                    Familial glucocorticoid deficiency disorders are a group of autosomal recessive disorders with variable phenotypes. Early diagnosis aids with effective treatment. This case discusses a couple who had come with a history of neonatal deaths and a spontaneous abortion for genetic counselling regarding the current pregnancy. On obtaining relevant family and antenatal history, a targeted genetic testing showed that the fetus had a homozygous melanocortin-2 receptor (\n                    <jats:italic>MC2R<\/jats:italic>\n                    ) gene mutation. Subsequently, the baby was delivered late preterm, with hyperpigmentation. Hydrocortisone was initiated early and post-treatment, and the baby showed stable electrolytes and did not develop hypoglycaemia. The case emphasises the importance of early genetic testing and counselling, especially in consanguineous couples, for better disease management. A multidisciplinary approach, involving paediatric genetics, endocrinology and neonatology, was crucial in achieving a positive outcome. This case highlights the potential of next-generation sequencing tools in identifying hereditary adrenal insufficiency, enabling timely intervention and improved patient care.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2024-262013","type":"journal-article","created":{"date-parts":[[2025,2,16]],"date-time":"2025-02-16T06:10:51Z","timestamp":1739686251000},"page":"e262013","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Familial glucocorticoid deficiency: genetic insights and treatment strategies in resource-limited settings"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6597-0620","authenticated-orcid":false,"given":"Anu","family":"Tresa","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Bharati Vidyapeeth Deemed University Medical College, Pune, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahul","family":"Jahagirdar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Bharati Vidyapeeth Deemed University Medical College, Pune, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruma","family":"Deshpande","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Bharati Vidyapeeth Deemed University Medical College, Pune, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaitanya","family":"Datar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Bharati Vidyapeeth Deemed University Medical College, Pune, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,2,16]]},"reference":[{"key":"2025082702310017000_18.2.e262013.1","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2023.1268345","article-title":"Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome","volume":"14","author":"Maharaj","year":"2023","journal-title":"Front Endocrinol (Lausanne)"},{"key":"2025082702310017000_18.2.e262013.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2012.12.010"},{"key":"2025082702310017000_18.2.e262013.3","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2000.01122.x"},{"key":"2025082702310017000_18.2.e262013.4","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1056\/NEJM197710272971707","article-title":"Absent Aldosterone Response to ACTH in Familial Glucocorticoid Deficiency","volume":"297","author":"Spark","year":"1977","journal-title":"N Engl J Med"},{"key":"2025082702310017000_18.2.e262013.5","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00482.x"},{"key":"2025082702310017000_18.2.e262013.6","doi-asserted-by":"crossref","DOI":"10.3389\/fnins.2015.00213","article-title":"Melanocortin receptor accessory proteins in adrenal disease and obesity","volume":"9","author":"Jackson","year":"2015","journal-title":"Front Neurosci"},{"key":"2025082702310017000_18.2.e262013.7","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2006.02709.x"},{"key":"2025082702310017000_18.2.e262013.8","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2008.03511.x"},{"key":"2025082702310017000_18.2.e262013.9","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-2414"},{"key":"2025082702310017000_18.2.e262013.10","doi-asserted-by":"crossref","unstructured":"Heshmatzad K , Mahdieh N , Rabbani A , et al . The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants. Int J Endocrinol 2020. doi:10.1155\/2020\/2190508","DOI":"10.1155\/2020\/2190508"},{"key":"2025082702310017000_18.2.e262013.11","doi-asserted-by":"crossref","unstructured":"Abuduxikuer K , Li ZD , Xie XB , et al . Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature. Front Endocrinol (Lausanne) 2019;10. doi:10.3389\/fendo.2019.00359","DOI":"10.3389\/fendo.2019.00359"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-262013","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T09:31:11Z","timestamp":1756287071000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-262013"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2]]},"references-count":11,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2025,2,16]]},"published-print":{"date-parts":[[2025,2]]}},"alternative-id":["10.1136\/bcr-2024-262013"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-262013","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2]]}}}