Publications by authors named "Anbezhil Subbarayan"

Objective: To assess the natural history and progression of subclinical hypothyroidism and to study factors which help predict evolution of subclinical hypothyroidism into overt hypothyroidism.

Methods: Longitudinal study in 40 children (2-16 yrs) presenting with subclinical hypothyroidism in a tertiary care unit in Chennai, India. Patients showing evidence of overt hypothyroidism or thyroid stimulating hormone ≥15 mIU/mL during follow-up were started on thyroxine.

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Kabuki syndrome (KS) is a congenital malformation disorder with a spectrum of clinical manifestations involving different organs. Until the identification of MLL2 gene mutation in 2010, the diagnosis was made only clinically by the characteristic facial features with other common and uncommon features. Hypoglycemia, although an uncommon feature in KS, is very important to be recognized, as early diagnosis and appropriate management will reduce further long-term neurologic morbidity in these patients.

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Objective: The prevalence of cardiovascular risk factors in congenital adrenal hyperplasia (CAH) varies widely. In the light of recent changes in treatment regimens, we have reassessed the prevalence of these risk factors in our current cohort of patients with CAH due to P450c21 deficiency.

Methods: A retrospective cross-sectional study of 107 children (39 m) with CAH aged 9·2 years (range 0·4-20·5 years).

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Background: The 10 warning signs of primary immunodeficiency diseases (PID) have been promoted by various organizations in Europe and the United States to predict PID. However, the ability of these warning signs to identify children with PID has not been rigorously tested.

Objective: The main goal of this study was to determine the effectiveness of these 10 warning signs in predicting defined PID among children who presented to 2 tertiary pediatric immunodeficiency centers in the north of England.

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