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Clinical Observation on isolated TRH deficient Congenital Hypothyroidism.

Journal of the Korean Pediatric Society 1990;33(10):1388-1393.
Published online October 31, 1990.
Clinical Observation on isolated TRH deficient Congenital Hypothyroidism.
Heon Seok Han, Hyung Ro Moon
Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea
TRH 단독 결핍성 선천성 갑상선기능 저하증에 관한 연구
한헌석, 문형로
서울대학교 의과대학 소아과학교실
Received: 27 March 1990   • Accepted: 25 May 1990
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.
Key Words: Isolated TRH deficient congenital hypothyroidism

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