بررسي 10ساله موارد پسودوهيپوپاراتيروييديسم در مركز تحقيقات غدد ومتابوليسم

THE STUDY OF PSUDOHYPOPARATHYROIDISM PATIENTS WHO REFERRED TO THE INSTITUTE OF ENDOCRINOLOGY AND METABOLISEM DURING 10 YEAR

Pseudohypoparathyroidism (PHP) refers to a spectrum of disorders which is characterized by resistance of target organ to parathyroid hormone(PTH) followed by hypocalcemia, hyperphosphatemia and hypersecretion of PTH. Nowadays different types of PHP (IA, 1B, 1C, 2) can be distinguished; the most common type among them is type 1 A accompanied by Albrightʹs phenotype (round faces, shortening of metacarpals & metatarsals, ...). PHP is an inherited disease and prevalence rate in different societies is variable. Can Albrightʹs phenotype be identified in most patients with PHP in our country? Is PHP always accompanied by hypocalcemia? As there has not been any study on PHP in our country, and considering possible differences among patients with PHP in different geographical regions, and in an effort to answer aforementioned questions, we decided to study clinical manifestations, laboratory findings and frequency of Albrightʹs phenotype in patients with PHP, who referred to the Institute of endocrinology and metabolism during past 10 years in an observational descriptive manner. 10 patients with PHP including 6 girls (60%) and 4 boys (40%) with the mean age of 13.8 ± 2.62 years were examined. Clinical manifestations of patients consisted of seizure(70%), paresthesia (30%), carpopedal spasm (20%), muscle cramps (20%), basal ganglion calcification (20%), chvostekʹs sign (10%), cataract (10%), abdominal pain (10%) and malaise (10%). Laboratory findings consisted of increased plasma PTH level in 100% (mean 172+85.56 pg/ml), hyperphosphatemia in 90% and hypocalcemia in 70% (mean 7.3 + 1.23 mg/dl) of patients were observed. Thyroid function tests done in 90% of patients were normal. Albrightʹs phenotype was identified in one patient (10%). Short stature in 30% and obesity in 10% of patients was observed. 8 patients (80%) had normal puberty and in 2 prepubertal patients (20%) secondary sexual characters had not appeared. PHP was common in females & adolescents. The most common clinical manifestations & laboratory findings were seizure & increased plasma PTH level respectively. PHP with normocalcemia was identified in 30% of patients. This may be due to the relative response of bones to PTH. Albrightʹs phenotype was identified in just 10% of the patients which can be attributed to the non prevalence of PHP type IA in our patients and this neccessitates conducting more studies in this regard. There was not any case of resistance to TSH and gonadotropines. As seizure is the most common clinical sign in PHP patients; therefore, measuring the level of serum calcium should be considered as a priority in each patient with seizure and PHP should be subjected to differential diagnosis.