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Podcast on Short Stature and Severe Primary IGF-1 Deficiency - Case Discussion and Management
Join 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
Prefer to listen on the go? Get the audio version on your favourite podcast platform: https://cor2ed.com/pe-connect/programmes/short-stature-spigfd/
This is the full video. Get the shorter highlights video here: https://www.youtube.com/watch?v=s5sqiJG0lWs
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This content is intended for healthcare professionals only.
The medical experts in this video are expressing their own views and not those of COR2ED, Supporters or their institution. This video is supported by an Independent Education Grant from Ipsen.
This video is developed by cor2ed.com
Published December 2024
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
Prefer to listen on the go? Get the audio version on your favourite podcast platform: https://cor2ed.com/pe-connect/programmes/short-stature-spigfd/
This is the full video. Get the shorter highlights video here: https://www.youtube.com/watch?v=s5sqiJG0lWs
Follow us on social media:
X
This content is intended for healthcare professionals only.
The medical experts in this video are expressing their own views and not those of COR2ED, Supporters or their institution. This video is supported by an Independent Education Grant from Ipsen.
This video is developed by cor2ed.com
Published December 2024
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