Endocrine Abstracts

JOINT4045

Introduction: Obesity is a chronic and complex disease that can affect your overall health and quality of life. A number of conditions could be hidden behind obesity. Pseudohypoparathyroidism (PHP) is a rare inherited disorder characterized by end-organ resistance or unresponsiveness to parathyroid hormone (PTH) resulting in increased serum PTH levels, hypocalcemia and hyperphosphatemia. Physical features of PHP are specific somatic and developmental abnormalities such as round facies with a ‘short, thick figure’, heterotopic subcutaneous ossifications (SCOs), brachydactyly and cognitive impairment.

Case report: We present a female patient who consulted with us in her late twenties due to extreme obesity. Her menarche was at age 13, after which her menstruations have always been irregular according to the type of oligomenorrhea, with the longest period without menstruation being of 3 months. In childhood, she was examined for obesity under the suspicion of hypercortisolism, which was ruled out. She gained weight in early childhood, with a maximum of 120 kg at the age of 12. Psychological examination showed mild cognitive impairment. During the physical examination we identified general obesity type with phenotypic characteristics of AHO (Albright hereditary dystrophy): brachydactyly, short stature, stocky habitus, macrocephaly, round face, short fingers on both hands, except for thumbs, SCOs in the pretibial region of lower extremities. Hand radiography showed shorter metacarpal bones of the fourth finger bilaterally with discrete degenerative changes. Cranial and chest radiography, neck and abdominal ultrasound, and ophthalmological examination were normal. Bone density was normal. Karyotype was 46, XX. Calcium and phosphorus homeostasis were intact with elevated calcitonin and PTH.

Consusion: Patients with PHP faces a wide range of problems due to hormone resistance that can lead to hypothyroidism, hypogonadism, growth impairment, ectopic ossifications, cognitive disorders and obesity. This highly heterogeneous clinical picture requires a multidisciplinary approach.