Adult presentation of Simpson-Golabi-Behmel syndrome due to a hemizygous GPC3 stopgain variant mimicking acromegaly
R K Rishabh, Satyavamsi Gadde, Himamshu Acharya, Vivekananda Bhat, Kishan Delampady, Ganesh HK · 2026
Read Adult presentation of Simpson-Golabi-Behmel syndrome due to a hemizygous GPC3 stopgain variant mimicking acromegaly by R K Rishabh, Satyavamsi Gadde, Himamshu Acharya, Vivekananda Bhat, Kishan Delampady, Ganesh HK (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13217258.txt.
Description
R. K. Rishabh and co-authors present a 2026 case report of a genetic overgrowth syndrome masquerading as acromegaly in a 33-year-old man. He stood nearly two metres tall with coarse facial features, an enlarged tongue, a jutting jaw, and extra nipples, a combination that pointed first to growth hormone excess.
Hormone testing ruled acromegaly out: his IGF-1 was actually low and growth hormone suppressed normally after glucose, while a tiny pituitary spot on MRI looked incidental. He also had mild intellectual disability and a similarly tall younger brother. Gene sequencing found a stop-making variant in GPC3, confirming Simpson-Golabi-Behmel syndrome, with his mother a carrier. The authors urge clinicians to consider overgrowth syndromes behind acromegaloid features.
Catalog record
| CREATOR | R K Rishabh, Satyavamsi Gadde, Himamshu Acharya, Vivekananda Bhat, Kishan Delampady, Ganesh HK |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 17 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |