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

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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

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In this second episode of a two-part podcast series focusing on neuroendocrine tumours (NETs), gastroenterologist Dr Mohid S Khan and NET patient Sally Jenkins explore shared decision-making, between patient and physician.

The speakers discuss different treatment settings, including home vs hospital-based injections, as well as the importance of individualising treatment decisions, as there is often no standard therapy for patients with NETs. Finally, they look at some of the studies reporting patient preferences, and how the data can be used to inform patient decisions.

Prefer to watch and listen?
Watch the video and download the full transcript on the COR2ED website https://cor2ed.com/net-connect/programmes/net-shared-decision-making/?media=1

Watch the full video on YouTube https://youtu.be/2JYuPhc2jHg

Watch the highlights video on YouTube – https://www.youtube.com/watch?v=pPMVLjPLv8k

Follow us on social media

LinkedIn: https://www.linkedin.com/company/cor2ed-net-connect

X: https://x.com/net_connectinfo

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 Medical Education Grant from Ipsen

This podcast is developed by cor2ed.com

Published July 2024

In this first episode of a two-part podcast series focusing on neuroendocrine tumours (NETs), gastroenterologist Dr Mohid S Khan and NET patient Sally Jenkins discuss the importance of communication and collaboration during consultations. This can include how to make a patient feel as comfortable and in control as possible, as well as recognising their goals and concerns.

The speakers share their real-life experiences of what makes a good consultation, from the perspectives of both a patient and a physician. They also explore the importance of support networks, individualising treatment, and the impact of NET and NET treatment options in daily life.

NETs are complex, rare diseases. Optimal management and treatment requires early diagnosis, shared decision-making, and timely referral. Are you aware of how healthcare practitioners and patients can share decision- making? Or the recent data on how patients prefer to receive treatment?

In this first episode of a two-part podcast series, Dr Mohid S Khan and NET patient Sally Jenkins discuss shared decision-making in NET consultations and ways to help the patient in their journey.

Prefer to watch and listen?
Watch the video and download the full transcript on the COR2ED website https://cor2ed.com/net-connect/programmes/net-shared-decision-making/

Watch the full video on YouTube https://youtu.be/YgqrEnSePWg

Watch the highlights video on YouTube – https://www.youtube.com/watch?v=pPMVLjPLv8k

Follow us on social media

LinkedIn: https://www.linkedin.com/company/cor2ed-net-connect

X: https://x.com/net_connectinfo

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 Medical Education Grant from Ipsen

This podcast is developed by cor2ed.com

Published July 2024