| Abstract [eng] |
Background: Pseudohypoparathyroidism is a rare endocrine disorder with a prevalence of about 1 case per 100,000 population. The most important feature of the disease is end-organ resistance to hormones, such as thyrotropin and gonadotropins, the most important being resistance to parathyroid hormone. These endocrine changes lead to delayed growth, neurocognitive impairment, seizures or behavioural changes, and can significantly impact quality of life. The disease may also have specific phenotypic features, collectively termed Albright's hereditary osteodystrophy, which is characterised by a stocky physique, brachydactyly and ectopic ossifications. Despite the growing number of studies, uncertainties remain, and new cases contribute to a better understanding and improved treatment. The aim of this study is to review the literature and compare it with a new case of pseudohypoparathyroidism presented here. Methods: literature review and clinical case presentation. Case presentation: A 26-year-old female has been treated with alfacalcidol for pseudohypoparathyroidism for over 20 years. She complains of wrist pain, impaired mobility and inability to conceive children. No other family member has this condition. Objectively, the patient has hypersthenic physique, short stature, ectopic ossifications. Laboratory tests show high parathyroid hormone levels and thyrotropin levels nearing upper limit. Despite the typical symptoms of pseudohypoparathyroidism, genetic tests cannot confirm the diagnosis. The patient is taking alfacalcidol, levothyroxine, metformin, vitamin D, and is being monitored by gynaecologists, fertility specialists and orthopaedists. Conclusion: pseudohypoparathyroidism is a disease requiring close follow-ups from childhood to adulthood, with symptoms that don‘t present immediately and with variations in severity between individuals, even with identical genetic mutations. |
