Short-stature conditions, including SPIGFD

Hear from Dr Andrew Dauber and Dr Marta Ramón Krauel in this podcast as they explore short stature conditions, including SPIGFD (severe primary IGF-1 deficiency) / growth hormone resistance, through real patient cases and clinical insights. While growth hormone deficiency is a well-known cause of short stature, this discussion covers patient cases where growth hormone levels are normal or even elevated, yet IGF-1 levels remain low—a hallmark of primary IGF-1 deficiency.  Gain valuable knowledge on identifying and managing this rare condition, with practical takeaways for clinical practice.   Key clinical takeaways:   Growth hormone resistance can range from severe IGF-1 deficiency, like in classic Laron syndrome, to milder mutations in the same receptor. There can also be mutations in other parts of the signalling pathway  Patients with SPIGFD have low IGF-1 levels resulting from growth hormone resistance or insensitivity, rather than deficiency, as they produce sufficient or even high levels of growth hormone without secondary causes of growth failure  Laron syndrome, a classic form of SPIGFD, is characterised by severe short stature and distinct features such as spontaneous hypoglycemia, mid-face hypoplasia, frontal bossing, a high-pitched voice, and underdeveloped genitalia in boys  Early and accurate diagnosis of SPIGFD is crucial for effective management, as growth hormone therapy is ineffective for these patients; recognising the distinction between severe and less severe IGF-1 deficiency, as well as primary versus secondary causes, ensures appropriate treatment to ensure optimal outcomes  Recombinant IGF-1 therapy is indicated for patients with SPIGFD. Healthcare professionals must monitor for adverse events such as hypoglycemia and potential malignancies    Watch the experts in conversation in the full video or get the 5-minute highlights: https://cor2ed.com/pe-connect/programmes/short-stature-spigfd/     Follow us on social media:  LinkedIn: https://www.linkedin.com/showcase/pe-connect/ X: https://x.com/peconnectinfo   This content is intended for healthcare professionals only.   The medical experts in this podcast are expressing their own views and not those of COR2ED, Supporters or their institution.  This podcast is supported by an Independent Education Grant from Ipsen  This podcast is developed by cor2ed.com  Published December 2024    Subscribe to this channel to stay up to date with new Independent Education programmes as they’re released.