Cretinism history and symptoms

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]

Overview

The majority of patients with cretinism are asymptomatic. A positive history of a family member had the disease before and maternal history of thyroid problems is suggestive of cretinism. The most common symptoms of cretinism include lethargy, hoarse cry, constipation, and umbilical hernia. Less common symptoms of cretinism include palpable goiter.

History and Symptoms

Patients with cretinism may be asymptomatic at the beginning.
History taking is essential in suspected cases of cretinism:
- Family history should be asked to detect any genetic inheritance among the family members.
- Maternal history should be also taken to detect if the mother had any thyroid problems before and to inform about the pregnancy.

Common Symptoms

Common symptoms of cretinism include:^[1]

Less Common Symptoms

Less common symptoms of cretinism include

Palpable goiter

References

↑ Law WY, Bradley DM, Lazarus JH, John R, Gregory JW (1998). “Congenital hypothyroidism in Wales (1982-1993): demographic features, clinical presentation and effects on early neurodevelopment”. Clin Endocrinol (Oxf). 48 (2): 201–7. PMID 9579233.

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[pmid9579233-1] Law WY, Bradley DM, Lazarus JH, John R, Gregory JW (1998). “Congenital hypothyroidism in Wales (1982-1993): demographic features, clinical presentation and effects on early neurodevelopment”. Clin Endocrinol (Oxf). 48 (2): 201–7. PMID 9579233.

[1]