Inactivating PTH / PTHrP Signaling Disorders (iPPSD) and Pseudohypoparathyroidism (PHP)

Following the secondary survey, the iPPSD/PHP condition specific module was launched in 2022. The aim of this Study Group is to implement the new nomenclature and classification for pseudohypoparathyroidism forms in the registries, now known as Inactivating PTH/PTHrP signaling disorders (iPPSD) (Thiele et al 2016), as well as to help better define the reported cases by generating a condition specific module.

This module aims to collect baseline and longitudinal data on the reported iPPSD cases. This module is intended for both clinicians and patients.

Its scope is to gather information on diagnostic and therapeutic process, as well as patient reported outcomes (PROs). These data will help in the future to better understand the variability of the phenotype and to ensure a more specific, individualized therapy.

Want to start using the module? Get access to the Core Registry and read the instructions (, 1 MB).

If you have questions or interest in joining the working group, please contact us on: registries@lumc.nl.

The full data dictionary can be downloaded here.

After entering the patient with the diagnosis of any type of Pseudohypoparathyroidism, Acrodysostosis, Blomstrand chondrodysplasia, Eiken disease and Hypertension and brachydactyly Syndrome (iPPSD 1-X) in the Core Registry, the iPPSD module appears automatically and is ready to use.

The module collects information on

• Perinatal features and auxology parameters;
• Genetic findings;
• Endocrine status;
• Clinical findings (including dental, gastrointestinal and musculoskeletal);
• Radiological findings (musculoskeletal, brain, renal and cardiac);
• Medical and surgical treatment.