Endocrine Abstracts

Introduction: Pseudo-hypoparathyroidism (PHP) is a rare endocrine disorder characterized by resistance to parathyroid hormone (PTH). We present a case of a 33-year-old, focusing on the clinical presentation, diagnostic, and management strategies, with particular attention to skeletal manifestations and tissue calcifications.

Case Description: The patient presented to the hospital with severe symptomatic hypocalcaemia. Initial assessment revealed low corrected calcium levels and slightly low magnesium levels, along with Vitamin D insufficiency. Treatment involved intravenous calcium followed by oral calcium and activated vitamin D.

Clinical Findings: She reported intermittent palpitations and expressed concerns about skeletal deformity, specifically genu valgum and subluxation of the patella. Physical examination showed normal blood pressure, height, and weight, with no physical signs of Albright hereditary osteodystrophy. The patient had a history of delayed menarche, regular menstrual cycles, and two successful pregnancies, as well as one miscarriage. She moved to Uk from Eastern Europe. She has no previous or family history of Endocrinopathies.

Diagnostic Workup: CT head imaging revealed extensive calcifications in various regions, including the corpus striatum, basal ganglia, sub-cortical white matter, cerebellum, and kidneys. CT KUB did not reveal renal stones. Genetic testing targeting the GNAS cluster supported diagnosing pseudo-hypoparathyroidism type 1b.

Management and Follow-up: She received alfacalcidol and calcium supplementation to maintain calcium levels slightly below the normal range. However, delayed presentation and lack of treatment during crucial periods resulted in skeletal deformities. A referral to orthopaedics was made for further management.

Conclusion: This case underscores the diagnostic challenges encountered in suspected pseudo-hypoparathyroidism. The patient’s clinical presentation, imaging findings, and biochemical profile strongly supported the diagnosis of this rare metabolic disorder. Delayed treatment and lack of intervention during critical periods likely have contributed to the observed skeletal deformities. Early diagnosis, prompt treatment, and meticulous management are essential for achieving favourable outcomes in patients with pseudo-hypoparathyroidism.