Abstract
Simpson-Golabi-Behmel syndrome (SGBS) is a rare genetic disorder that is characterized by the overgrowth of various parts of the body. We present a unique case of a young man with SGBS associated with pituitary insufficiency. This association has not been described yet in the literature. The patient was diagnosed with SGBS at 12 years, which was further confirmed through genetic testing (de novo nonsense mutation of the GPC3 gene). At the age of 18, the patient consulted for alteration of the general condition with asthenia. Laboratory evaluation revealed pituitary insufficiency consisting of central hypothyroidism associated with partial secondary adrenal insufficiency. The pituitary MRI was unremarkable. So far, Pituitary insufficiency has never been described in SGBS cases. To our knowledge, this is the first case reported in the literature.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
