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Endocrine Abstracts (2025) 110 EP1492 | DOI: 10.1530/endoabs.110.EP1492

ECEESPE2025 ePoster Presentations Thyroid (198 abstracts)

Hypothyroidism in infants and young children: diagnostic challenges and clinical manifestations

Ayesha Abdul Razzaq 1,2 , Rehmana Waris 1 , Aimen Waris 3 & Aqeela Ayub 3


1Children Hospital, PIMS, Islambad, Pakistan; 2Children Hospital, PIMS Islamabad, Islamabad, Pakistan; 3Holyfamily Hospital, Rawalpindi, Pakistan.


JOINT3640

Objectives: The incidence of pediatric hypothyroidism is rising with nearly 1 in 257 infants affected each year in our country. Disease is usually diagnosed late due to vague symptoms. Current study is conducted to identify the symptoms which should alert the physicians and help in reaching correct diagnosis.

Study design: This is a observational and prospective study. Place and duration of study: It was conducted at Children Hospital, Pakistan Institute of Medical Sciences from March 2023 to March 2024.

Methods: Children aged 5 years or below with low serum T4 and raised TSH levels were included in study. Data was analyzed by applying appropriate statistical tests via SPSS.

Results: In newborns to infants up to 3 months of age, the most common symptoms are prolonged jaundice, feeding difficulties, and constipation. Between 3 months to 1 year, constipation, hypotonia, and coarse facies become the predominant features. From 1 to 5 years, the most frequently observed signs include hypotonia, coarse facies, short stature, and periorbital puffiness. The most common clinical manifestation across all age groups is hypotonia (75.4%), followed by coarse facies (64.9%) and constipation (64.9%). Other notable features include periorbital puffiness, feeding difficulties, prolonged jaundice, short stature, developmental delay, umbilical hernia, wide anterior fontanelle, and in some cases, goiter.

Conclusion: Hypothyroidism in children is challenging to diagnose due to its nonspecific symptoms, which often overlap with other conditions. The prevalence of this condition in the pediatric population within our region highlights the need for prompt and efficient diagnosis and management. Special attention should be given to infants presenting with persistent jaundice, feeding difficulties, or poor weight gain. Beyond infancy, clinical signs such as hypotonia, coarse facial features, delayed development, and poor growth should raise suspicion for hypothyroidism. Early recognition and treatment are crucial to prevent long-term complications, including developmental delays and cognitive impairment.

Key Words: Hypothyroidism, persistent Jaundice, generalized hypotonia, coarse facies, Constipation.

Volume 110

Joint Congress of the European Society for Paediatric Endocrinology (ESPE) and the European Society of Endocrinology (ESE) 2025: Connecting Endocrinology Across the Life Course

European Society of Endocrinology 
European Society for Paediatric Endocrinology 

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