Endocrine Abstracts

JOINT3059

Introduction: Pseudohypoparathyroidism (PTH) represents a group of diseases characterized by by tissue resistance to parathormone and other endocrine disorders like hypothyroidism. Albright osteodystrophy phenotype consists of a number of symptoms concerning the patient’s skeletal system and may often coexist with PTH. Patients in the majority are obese and with developmental delay.

Aim: We present the case of familial Albright osteodystrophy

Material and method: A 3-year-old male was admitted to Endocrinologic Ward with suspected hyperparathyroidism. He was originally referred to the Metabolic Disease Outpatient Clinic for obesity, but tests performed there showed elevated parathormone levels. A baby born from a second pregnancy, by cesarean section, on time, with a birth weight of 2920g. At birth, there was a disproportion in the size of the head and chest, a smooth philtrum, and a thin upper lip. Diagnosis performed for TORCH infection was negative. The boy had currently the following health problems: hypothyroidism, delayed psychomotor development, hypertrophy of the pharyngeal tonsil, frequent respiratory infections. Excessive weight gain has been observed since birth. Prader- Willi syndrome was ruled out. The patient’s mother was diagnosed with short stature (finall height: 145 cm) as a child. The boy’s older brother suffers from hypothyroidism, autism and elevated parathormone levels as well. The mother and brother have a body disproportions.

Results: Anthropometric measurement revealed patient’s weight: 23.9 kg (>97 pc) and height: 91.5 cm (25-50 pc). The physical examination showed features of obesity, a large head, prominent forehead, bowed lower limbs, brachydactyly and enlarged palatal tonsils. Laboratory tests revealed hypertriglyceridemia, elevated parathormone and phosphate levels, slightly reduced vitamin D3 levels, normal total and ionized calcium levels. Thyroid ultrasound did not visualize parathyroid glands. Whole exome sequencing (WES) was performed and analysis of the detected variants. A known pathogenic heterozygous c.1006C>T variant (p.Arg336Trp) in the GNAS gene was detected. The older brother underwent genetic analysis which confirmed the presence of the same mutation. We are awaiting the results of genetic testing of the patient’s mother anf father.

Conclusion: Although PHP is a rare condition, it should be considered in the diagnosis of obesity with concomitant skeletal problems and calcium-phosphate disorders. We emphasise the meaning of genetic investigation in confirming the etiology of hyperparathyroidism.