{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T13:17:37Z","timestamp":1788268657522,"version":"build-2803163510"},"reference-count":40,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T00:00:00Z","timestamp":1784851200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T00:00:00Z","timestamp":1784851200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Meier\u2010Gorlin\u2010syndrome (MGORS) is a rare cause of primordial dwarfism stemming from pathogenic variants in genes involved in DNA replication. The classic clinical triad is microtia, absent patella and short stature. MGORS can mimic endocrine causes of short stature or delayed\/atypical pubertal development.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We report two new cases of MGORS. A systematic literature search of all cases published up to 31 March 2026 was done to identify the cases reporting any endocrinopathy or hormonal therapy, focussing on growth\u2010hormone\u2010deficiency (GHD) and response to growth hormone (GH).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We describe a 14 year\u2010old girl, the first MGORS case with\n                      <jats:italic>CDC6<\/jats:italic>\n                      variant and mammary hypoplasia. Another 11\u2010year old boy with\n                      <jats:italic>GMNN<\/jats:italic>\n                      variant had severe short\u2010stature with GHD and had significant height improvement with GH. Among 29 cases (out of ~150 published), the classic triad was absent in 18.5%. Short stature was almost universal (median height\u2010\n                      <jats:italic>Z<\/jats:italic>\n                      \u2010score \u22124.4), with 70% exhibiting delayed bone age, 42.9% low IGF\u20101 and 35.3% GHD. Among 10 GH\u2010treated cases with response data, 6 had reported improvement in height\u2010SDS\/growth\u2010velocity. Those with GHD and delayed bone age were more likely to benefit from GH. Among females, all post\u2010pubertal cases had mammary hypoplasia, while 23.5% had clitoromegaly with hypoplastic labia. Among males, cryptorchidism, hypoplastic scrotum and micropenis were common. However, gonadal hormones and gonadotrophins were normal. Data on the effect of estrogen on hypoplastic mammary glands or labia was variable.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>MGORS should be kept in mind as a differential of multiple endocrinopathies. Cases of MGORS should undergo screening for GHD. Available data, mostly from case\u2010reports or small series, suggest that response to GH has been reported in some individuals, particularly where GHD or delayed bone age was present, but evidence remains very limited.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/cen.70183","type":"journal-article","created":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T12:12:13Z","timestamp":1784895133000},"page":"416-431","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Endocrine Phenotypes and Hormonal Treatment in Meier\u2010Gorlin Syndrome: Report of Two Cases and a Systematic Review of Literature"],"prefix":"10.1111","volume":"105","author":[{"given":"Kumar","family":"Swapnil","sequence":"first","affiliation":[{"name":"Department of Endocrinology NRS Medical College and Hospital Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4395-4504","authenticated-orcid":false,"given":"Rajdeep","family":"Basu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology NRS Medical College and Hospital Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roohi","family":"Nanda","sequence":"additional","affiliation":[{"name":"Department of Endocrinology NRS Medical College and Hospital Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3064-466X","authenticated-orcid":false,"given":"Sunetra","family":"Mondal","sequence":"additional","affiliation":[{"name":"Department of Endocrinology NRS Medical College and Hospital Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soumita","family":"Mandal","sequence":"additional","affiliation":[{"name":"Department of Endocrinology NRS Medical College and Hospital Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soumik","family":"Goswami","sequence":"additional","affiliation":[{"name":"Department of Endocrinology NRS Medical College and Hospital Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2419-9096","authenticated-orcid":false,"given":"Arjun","family":"Baidya","sequence":"additional","affiliation":[{"name":"Department of Endocrinology NRS Medical College and Hospital Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nilanjan","family":"Sengupta","sequence":"additional","affiliation":[{"name":"Department of Endocrinology NRS Medical College and Hospital Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,24]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1097\/01.mcd.0000065052.36236.32","article-title":"Another Adult with Meier\u2010Gorlin Syndrome: Insights Into the Natural History","volume":"12","author":"Shalev S. 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