{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T11:07:54Z","timestamp":1779966474627,"version":"3.53.1"},"reference-count":12,"publisher":"The Endocrine Society","issue":"7","license":[{"start":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T00:00:00Z","timestamp":1779926400000},"content-version":"vor","delay-in-days":8,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,5,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Simpson-Golabi-Behmel syndrome (SGBS) is a rare, X-linked overgrowth disorder caused by pathogenic variants in the GPC3 gene, which encodes glypican-3. It is characterized by prenatal and postnatal overgrowth, craniofacial dysmorphism, supernumerary nipples, skeletal anomalies, and variable neurodevelopmental delay. Because of overlapping features such as macroglossia and coarse facial appearance, SGBS may be mistaken for acromegaly. We report a 33-year-old man evaluated for apparent acromegaloid facies. He had tall stature (196.5\u2005cm; &amp;gt;97th percentile), macroglossia, mandibular prognathism, hypertelorism, supernumerary nipples, delayed developmental milestones, and mild intellectual disability. His brother had similar but milder features. Serum insulin-like growth factor 1 concentration was 75.9\u2005ng\/mL (SI: 9.95\u2005nmol\/L) (reference range, 94-284 ng\/mL [SI: 12.3-37.2\u2005nmol\/L]), and growth hormone suppressed to 0.49 ng\/mL (SI: 0.49\u2005\u00b5g\/L) following an oral glucose tolerance test, excluding acromegaly. Magnetic resonance imaging showed a 2.2-mm pituitary microadenoma considered incidental. Exome sequencing identified a hemizygous nonsense pathogenic variant in GPC3 (c.1159C &amp;gt; T; p.Arg387Ter), confirming SGBS type 1; the mother was heterozygous. This case highlights that tall stature with dysmorphic features, and supernumerary nipples, should prompt consideration of SGBS, with endocrine testing used to exclude acromegaly.<\/jats:p>","DOI":"10.1210\/jcemcr\/luag115","type":"journal-article","created":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T11:36:30Z","timestamp":1775302590000},"source":"Crossref","is-referenced-by-count":0,"title":["Adult presentation of Simpson-Golabi-Behmel syndrome due to a hemizygous\n                    <i>GPC3<\/i>\n                    stopgain variant mimicking acromegaly"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-0758-3083","authenticated-orcid":false,"given":"R K","family":"Rishabh","sequence":"first","affiliation":[{"name":"Department of Endocrinology, AJ Institute of Medical Sciences , Mangaluru, Karnataka 575004 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-6775-7153","authenticated-orcid":false,"given":"Satyavamsi","family":"Gadde","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, AJ Institute of Medical Sciences , Mangaluru, Karnataka 575004 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7374-353X","authenticated-orcid":false,"given":"Himamshu","family":"Acharya","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, AJ Institute of Medical Sciences , Mangaluru, Karnataka 575004 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5069-2445","authenticated-orcid":false,"given":"Vivekananda","family":"Bhat","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College , Manipal Academy of Higher Education, Manipal, Karnataka 576104 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-9247-2666","authenticated-orcid":false,"given":"Kishan","family":"Delampady","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, NMC Royal Hospital , Sharjah 70667 ,","place":["United Arab Emirates"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ganesh","family":"HK","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, AJ Institute of Medical Sciences , Mangaluru, Karnataka 575004 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2026,5,28]]},"reference":[{"issue":"2","key":"2026052806484181900_luag115-B1","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/j.mayocp.2021.11.007","article-title":"Diagnosis and treatment of acromegaly: an 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