Cretinism physical examination

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

Overview

Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].

OR

Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

The presence of [finding(s)] on physical examination is diagnostic of [disease name].

OR

The presence of [finding(s)] on physical examination is highly suggestive of [disease name].

Physical Examination

Appearance of the Patient

Patients with cretinism usually appear asymptomatic at the beginning^[1]

Vital Signs

Hypothermia

Skin

Jaundice
Pallor
Dry skin

HEENT

Large fontanelles
Myxedema
Coarse facial features
Macroglossia

Neck

Goiter

Heart

Bradycardia
Atrial and ventricular septal defects

Abdomen

Umbilical hernia

Genitourinary

Delayed puberty in the children
In severe cases, it can cause pseudo precocious puberty:^[2]
- Enlarged breast in females
- Enlarged testes in the males

Neuromuscular

Delayed deep tendon reflexes
Hypotonia
Intellectual disability

Extremities

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.
↑ Anasti JN, Flack MR, Froehlich J, Nelson LM, Nisula BC (1995). "A potential novel mechanism for precocious puberty in juvenile hypothyroidism". J Clin Endocrinol Metab. 80 (1): 276–9. doi:10.1210/jcem.80.1.7829625. PMID 7829625.

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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.

[pmid7829625-2] Anasti JN, Flack MR, Froehlich J, Nelson LM, Nisula BC (1995). "A potential novel mechanism for precocious puberty in juvenile hypothyroidism". J Clin Endocrinol Metab. 80 (1): 276–9. doi:10.1210/jcem.80.1.7829625. PMID 7829625.

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