Hypoparathyroidism & pseudohypoparathyroidism

Description

The Paediatric Endocrinology Clinic provides diagnosis and follow-up for patients aged 0 to 18 years with an endocrine problem, meaning a condition involving hormones (growth, puberty, the pituitary gland, thyroid, adrenal glands, sexual development and bone metabolism). Some rare endocrine diseases require follow-up by several specialists. The doctor–nurse team aims to empower patients to become experts in their disease by informing them and listening to them as effectively as possible. Communication between the various specialists takes place during multidisciplinary meetings at HUDERF, in collaboration with Belgian teams (Belgian Study Group for Pediatric Endocrinology). At European level, the centre is integrated into and actively participates in the ENDO-ERN network established by the European Commission. The idea is as follows: the European Union is a vast reservoir of knowledge and expertise, and it is the ideas that travel, for the benefit of patients with rare diseases.

What are hypoparathyroidism and pseudohypoparathyroidism ?

Hypoparathyroidism and pseudohypoparathyroidism (recently referred to as Inactivating PTH/PTHrP Signaling Disorder – IPPSD type 2) are rare diseases of the parathyroid glands, which secrete parathyroid hormone, essential for regulating calcium and phosphorus in the body. In hypoparathyroidism, the level of parathyroid hormone in the blood is too low, causing a decrease in blood calcium levels; the disease may be present from birth or develop later, sometimes as part of a genetic syndrome or after surgery (most often a thyroidectomy). In pseudohypoparathyroidism, the body is resistant to parathyroid hormone; the disease generally appears during childhood and is associated with resistance to other hormones, such as thyroid hormones, growth hormone or certain hormones involved in puberty.

The symptoms are related to a decrease in blood calcium levels. They can vary considerably depending on age and circumstances: muscle cramps or stiffness, tingling, unusual fatigue, irritability and attention difficulties.

Care management

Diagnosis of a parathyroid disorder is often suspected based on the patient’s symptoms (muscle cramps, tingling in the extremities, muscle weakness, fatigue, and sometimes seizures). Blood test results confirm the diagnosis and also enable follow-up. The child’s care is based on specialist assessment and regular monitoring to maintain optimal calcium balance and prevent complications. It includes a clinical and laboratory assessment and, where necessary, often genetic testing. Treatment generally combines calcium and active vitamin D supplementation, with individualised adjustment according to the child’s age, growth and lifestyle.

Care is multidisciplinary, involving paediatric endocrinologists, nurses and dietitians and, depending on the situation, geneticists, nephrologists or psychologists. The aim is to ensure comprehensive follow-up, support the child and family in understanding the condition, and optimise long-term quality of life

Advice

Good adherence to the prescribed treatment and regular medical follow-up are essential. It is important to follow the schedules and doses for supplements and to report any change in behaviour, unusual fatigue or persistent symptoms to the care team. A balanced diet also contributes to maintaining good mineral balance. In the event of unusual acute symptoms (faintness, significant spasms or altered consciousness), it is recommended to consult an emergency department without delay. If in doubt, the medical team remains the best point of contact for adjusting care.

Transition to adulthood

During adolescence, a gradual preparation for the transition to adult care is organised with the adult endocrinology team at Erasme Hospital. This stage helps strengthen the young patient’s autonomy, ensure continuity of medical follow-up and transfer all the information required to the specialised adult service. The transition is planned in collaboration with the child, their family, and the paediatric and adult teams.

Focus

Patients are treated by an accredited paediatric endocrinologist; genetic testing and genetic counselling are carried out in a specialised laboratory. A 24-hour on-call service is provided. Our centre is actively involved in improving knowledge and care for children with rare endocrine diseases. A dedicated European ERN database for hypoparathyroidism will soon be established. It will provide a better understanding of the disease’s progression, optimise follow-up practices and enable comparisons of care between different specialised centres. This initiative will help improve the quality of care, advance research and, ultimately, provide families with care that is increasingly tailored, safe and personalised.