Introduction : Central Congenital Hypothyroidism (CCH) is defined as an inadequate stimulation of the thyroid gland by the pituitary, at birth. 1 in 13000 children get affected by CCH. Although majority of CCH occur as a part of combined pituitary hormone deficiencies (CPHD), it can also occur rarely as an isolated condition. Upto 90% of isolated central CH cases have identifiable genetic causes (IGSF1, TBL1X, IRS4). This case report provides information on a practical approach to diagnosis and management of this alluring condition.
Conclusion : Due to the severity of the condition, early detection and treatment leads to good neurodevelopmental outcome.