Clinical presentations of congenital hypothyroidism in pediatric age group

Prasad Nayak N., Roshan Maben


Background: Hypothyroidism (HT) in pediatric age group is of prime importance because of it’s varied presentations. Missing a diagnosis of hypothyroidism is disastrous since it results in mental retardation (MR). Hence, it is mandatory to know the various types of clinical presentation in clinical practice.

Methods: Study includes 30 children who were diagnosed to have hypothyroidism. Detail history were taken thorough examination carried out and thyroid function tests were obtained in all the cases. Results were statistically analyzed in Microsoft office excel 2007.

Results: Majority of the children were diagnosed at the age of 1-3 month of age. Males and females were almost equally affected, 70% of the children had constipation, 26.7% of the cases presented with umbilical hernia, feeding difficulties were seen in 23.3%, abdominal distention and prolonged jaundice were seen in 20% of the cases. 10% of the cases presented with short stature and 6.6% children showed obesity.

Conclusions: Detailed history and examination of each infant will help in early diagnosis of congenital hypothyroidism (CH). High index of clinical suspicion should be made when any of clinical features of hypothyroidism are present.


Congenital hypothyroidism, Hypothyroidism, Mental retardation

Full Text:



Stephen H. La Franchie, Stephen A. Huang. Hypothyroidism Nelson Textbook of Pediatrics. 2016:2665.

Khera MS, Venkateshwer WV, Kanticar M, Devgan A. Varied presentation of hypothyroidism in children. MJAFI. 2011;67:174-6.

Desai MP. Disorders of thyroid gland in India. The Ind J Pediatr. 1997;64(1):11-20.

Malik BA, Butt MA. Is delayed diagnosis of hypothyroidism still a problem in Faisalabad, Pakistan. J Pak Med Assoc. 2008;58;545-9.

Khan MA, Ashamat, Rehaman UL, Jabeen R, Farouq S. Subclinical Hypothyroidism: Cinical presentation and treatment indications Pak J Med Sci. 2017;33(6):818-22.

Canaris GJ, Manowitz NR, Mayor G, Ridgway EC. The Colorado thyroid disease prevalence study. Arch Internal Med. 2000;160(4):526-34.

Waller DK, Anderson JL, Lorey F, Cunningham GC. Risk factors for congenital hypothyroidism: an investigation of infant's birth weight, ethnicity, and gender in California, 1990-1998. Teratology. 2000;62(1):36-41.

Pezzuti IL, de Lima PP,DiasVM.Congenital hypothyroidism:the clinical profile of affected newborns identified by the Newborn Screening Program of the State of Minas Gerais, Brazil. J Pediatr (Rio J).2009;85(1):72-9.

Karki ST, Rai GK, Karki BB, Gurung R. Clinico-aetiological Profile of Congenital Hypothyroidism. J Nepal Paediatr Soc. 2016;36(2):126-30.

Grant DB, Smith I, Fuggle PW, Tokar S, Chapple J. Congenital hypothyroidism detected by neonatal screening: relationship between biochemical severity and early clinical features. Arch Dis Childhood. 1992;67(1):87-90.

Singh A, Purani C, Mandal A, Mehariya KM, Das RR. Prevalence of thyroid disorders in children at a tertiary care hospital in western India. J Clin Diag Res. 2016;10(2):SC01.