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Laboratory and Field Culture of Larvae of The Slipper Limpet, Crepidula fornicata
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Cretinism revisited.

Ankit Srivastav1, Indira Maisnam, Deep Dutta

  • 1Department of Endocrinology, Institute of Post Graduate Medical Education & Research, Kolkata, India.

Indian Journal of Endocrinology and Metabolism
|April 9, 2013
PubMed
Summary
This summary is machine-generated.

This case highlights severe myxedematous cretinism in a 22-year-old Indian male due to untreated congenital hypothyroidism and thyroid aplasia. Early diagnosis and treatment are crucial for preventing severe growth and developmental delays.

Keywords:
Cretinismiodine 131 uptakethyroid aplasia

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Area of Science:

  • Endocrinology
  • Pediatrics
  • Genetics

Background:

  • Congenital hypothyroidism, if left untreated, can lead to cretinism, characterized by severe physical and mental stunting.
  • While largely eradicated in developed nations, cretinism remains a concern in regions like India.

Observation:

  • A 22-year-old male presented with profound growth retardation (83 cm height, 13.9 kg weight), intellectual disability, and sexual infantilism.
  • Clinical features included a dull expression, puffy face, macroglossia, and umbilical hernia.
  • Investigations revealed severe hypothyroidism (TSH >150 IU/ml, low fT4/fT3), thyroid aplasia on ultrasound, and delayed bone age (<1 year).

Findings:

  • The patient exhibited severe developmental delays, unable to stand, walk unsupported, or speak beyond monosyllables.
  • Thyroid aplasia was confirmed via imaging and Iodine-131 uptake scan.
  • The diagnosis of myxedematous cretinism due to thyroid aplasia was established.

Implications:

  • This case underscores the most severe presentation of untreated congenital hypothyroidism, emphasizing the critical need for early screening and intervention.
  • Highlights the continued prevalence of cretinism in certain regions and the importance of public health initiatives.
  • Timely thyroxine supplementation is essential to mitigate the severe physical and cognitive deficits associated with congenital hypothyroidism.