Cretinism physical examination: Difference between revisions
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==Overview== | ==Overview== | ||
Patients with | 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== | ==Physical Examination== | ||
===Appearance of the Patient=== | ===Appearance of the Patient=== | ||
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===Vital Signs=== | ===Vital Signs=== | ||
*Hypothermia | *[[Hypothermia]] | ||
===Skin=== | ===Skin=== | ||
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===HEENT=== | ===HEENT=== | ||
* Large fontanelles | * Large [[fontanelles]] | ||
* Myxedema | * [[Myxedema]] | ||
* Coarse facial features | * [[Coarse facial features]] | ||
* Macroglossia | * [[Macroglossia]] | ||
===Neck=== | ===Neck=== | ||
*Goiter | *[[Goiter]] | ||
===Heart=== | ===Heart=== | ||
*Bradycardia | *[[Bradycardia]] | ||
*Atrial and ventricular septal defects | *[[Atrial septal defect|Atrial]] and [[ventricular septal defects]] | ||
===Abdomen=== | ===Abdomen=== | ||
* Umbilical hernia | * [[Umbilical hernia]] | ||
=== Genitourinary === | === Genitourinary === | ||
* Delayed puberty in the children | * [[Delayed puberty]] in the children | ||
* In severe cases, it can cause pseudo precocious puberty:<ref name="pmid7829625">{{cite journal| author=Anasti JN, Flack MR, Froehlich J, Nelson LM, Nisula BC| title=A potential novel mechanism for precocious puberty in juvenile hypothyroidism. | journal=J Clin Endocrinol Metab | year= 1995 | volume= 80 | issue= 1 | pages= 276-9 | pmid=7829625 | doi=10.1210/jcem.80.1.7829625 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7829625 }}</ref> | * In severe cases, it can cause pseudo precocious puberty:<ref name="pmid7829625">{{cite journal| author=Anasti JN, Flack MR, Froehlich J, Nelson LM, Nisula BC| title=A potential novel mechanism for precocious puberty in juvenile hypothyroidism. | journal=J Clin Endocrinol Metab | year= 1995 | volume= 80 | issue= 1 | pages= 276-9 | pmid=7829625 | doi=10.1210/jcem.80.1.7829625 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7829625 }}</ref> | ||
** Enlarged breast in females | ** Enlarged breast in females | ||
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===Neuromuscular=== | ===Neuromuscular=== | ||
*Delayed deep tendon reflexes | *Delayed [[Deep tendon reflex|deep tendon reflexes]] | ||
*Hypotonia | *[[Hypotonia]] | ||
*Intellectual disability | *[[Intellectual disability]] | ||
===Extremities=== | ===Extremities=== | ||
*[[Clubbing]] | *[[Clubbing]] | ||
*[[Cyanosis]] | *[[Cyanosis]] | ||
*Edema | *[[Edema]] | ||
==References== | ==References== |
Revision as of 15:36, 8 September 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
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
Appearance of the Patient
- Patients with cretinism usually appear asymptomatic at the beginning[1]
Vital Signs
Skin
HEENT
Neck
Heart
Abdomen
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
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.