Cretinism physical examination

Cretinism Microchapters

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

## Overview[edit | edit source]

Patients with cretinism usually appear asymptomatic at the beginning of the disease. Physical examination of patients with cretinism is usually remarkable for jaundice, dry skin, large fontanelles, macroglossia, umbilical hernia, bradycardia, delayed puberty, and hypotonia.

## Physical Examination[edit | edit source]

### Appearance of the Patient[edit | edit source]

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

### Vital Signs[edit | edit source]

* Hypothermia

### Skin[edit | edit source]

* Jaundice
* Pallor
* Dry skin

### HEENT[edit | edit source]

* Large fontanelles
* Myxedema
* Coarse facial features
* Macroglossia

### Neck[edit | edit source]

* Goiter

### Heart[edit | edit source]

* Bradycardia
* Atrial and ventricular septal defects

### Abdomen[edit | edit source]

* Umbilical hernia
* Abdominal distension

A three month old infant with untreated CH; close up showing abdominal distension and umbilical hernia. Source:By Rastogi and LaFranchi; licensee BioMed Central Ltd. - http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2903524/figure/F1/, CC BY 2.5, https://commons.wikimedia.org/w/index.php?curid=30525459

### Genitourinary[edit | edit source]

* 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[edit | edit source]

* Delayed deep tendon reflexes
* Hypotonia
* Intellectual disability

### Extremities[edit | edit source]

* Clubbing
* Cyanosis
* Edema

## References[edit | edit source]

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.CS1 maint: Multiple names: authors list (link)
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.CS1 maint: Multiple names: authors list (link)

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