All issues > Volume 33(10); 1990

Original Article

J Korean Pediatr Soc. 1990;33(10):1388-1393. Published online October 31, 1990.

Clinical Observation on isolated TRH deficient Congenital Hypothyroidism.

Heon Seok Han¹, Hyung Ro Moon¹

¹Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea

Received: March 27, 1990;  Accepted: May 25, 1990.

Abstract

Clinical features and endocrine function of 3 children with isolated TRH deficient congenital hypothyroidism followed at Seoul National University Children’s Hospital from Aug, 1986 to Aug. 1990 were reviewed. During above period 262 congenital hypothyroid patients were followed at endocrine clinic, number of congenital primary hypothyroidism was 218 cases (83.2%), and that of congenital secondary hypothyroidism was 44 cases (16.8%). Of the congenital primary hypothyroidism, 194 cases(74%) were thyroid dysgenesis and 24 cases(9.2%) were thyroid dyshormonogenesis. Of the congenital secondary hypothyroidism, 4 cases(1.5%) were isolated form and 40 cases(15.3%) were combined form. Of the 4 isolated congenital secondary hypothyroidism, 3 cases were isolated TRH deficient form(1.2%). They were all female and diagnosed between 7.5 to 15.9 year of age. All complained short stature, but other clinical features of cretinism were not prominent. Associat- ed congenital anomaly was detected in one case as Turner syndrome. TRH stimulation test revealed normal response in 2 cases, exaggerated and prolonged response in 1 case. During OPD follow up with thyroxine replacement, rapid growth velocity was observed in 2 cases.

Keywords :Isolated TRH deficient congenital hypothyroidism