Turner syndrome differential diagnosis: Difference between revisions
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{{Turner syndrome}} | {{Turner syndrome}} | ||
{{CMG}}; {{AE}}{{EG}} | {{CMG}}; {{AE}}{{EG}}{{Akash}} | ||
==Overview== | ==Overview== | ||
[[Turner's syndrome]] must be differentiated from other [[diseases]] that cause latency in [[secondary sexual characteristics]] development, such as [[constitutional delay of puberty]], [[hypopituitarism]], [[delayed puberty]], and [[chromosomal abnormalities]]. [[Chromosomal abnormalities|Chromosomal abnormality]] is [[Noonan's syndrome]]. | [[Turner's syndrome]] must be differentiated from other [[diseases]] that cause latency in [[secondary sexual characteristics]] development, such as [[constitutional delay of puberty]], [[hypopituitarism]], [[delayed puberty]], and [[chromosomal abnormalities]]. [[Chromosomal abnormalities|Chromosomal abnormality]] is [[Noonan's syndrome]]. | ||
==Differentiating Turner's syndrome from other diseases== | ==Differentiating Turner's syndrome from other diseases== | ||
*[[Turner's syndrome]] must be differentiated from other [[diseases]] that cause latency in [[secondary sexual characteristics]] development, such as [[constitutional delay of puberty]], [[hypopituitarism]], [[delayed puberty]], and [[chromosomal abnormalities]]. [[Chromosomal abnormalities|Chromosomal abnormality]] is [[Noonan's syndrome]].<ref name="pmid10414639">{{cite journal |vauthors=Blondell RD, Foster MB, Dave KC |title=Disorders of puberty |journal=Am Fam Physician |volume=60 |issue=1 |pages=209–18, 223–4 |year=1999 |pmid=10414639 |doi= |url=}}</ref> | *[[Turner's syndrome]] must be differentiated from other [[diseases]] that cause latency in [[secondary sexual characteristics]] development, such as [[constitutional delay of puberty]], [[hypopituitarism]], [[delayed puberty]], and [[chromosomal abnormalities]]. [[Chromosomal abnormalities|Chromosomal abnormality]] is [[Noonan's syndrome]].<ref name="pmid10414639">{{cite journal |vauthors=Blondell RD, Foster MB, Dave KC |title=Disorders of puberty |journal=Am Fam Physician |volume=60 |issue=1 |pages=209–18, 223–4 |year=1999 |pmid=10414639 |doi= |url=}}</ref> | ||
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|[[Polyneuropathy]]<br>[[Hypogonadism]]<br>[[Plasma cell dyscrasia|Plasma cell dyscrasias]] | |[[Polyneuropathy]]<br>[[Hypogonadism]]<br>[[Plasma cell dyscrasia|Plasma cell dyscrasias]] | ||
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Latest revision as of 08:30, 18 August 2020
Turner syndrome Microchapters |
Diagnosis |
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Treatment |
Case Studies |
Turner syndrome differential diagnosis On the Web |
American Roentgen Ray Society Images of Turner syndrome differential diagnosis |
Risk calculators and risk factors for Turner syndrome differential diagnosis |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Eiman Ghaffarpasand, M.D. [2] Akash Daswaney, M.B.B.S[3]
Overview
Turner's syndrome must be differentiated from other diseases that cause latency in secondary sexual characteristics development, such as constitutional delay of puberty, hypopituitarism, delayed puberty, and chromosomal abnormalities. Chromosomal abnormality is Noonan's syndrome.
Differentiating Turner's syndrome from other diseases
- Turner's syndrome must be differentiated from other diseases that cause latency in secondary sexual characteristics development, such as constitutional delay of puberty, hypopituitarism, delayed puberty, and chromosomal abnormalities. Chromosomal abnormality is Noonan's syndrome.[1]
Diseases | Laboratory Findings | Physical examinations | Other Findings | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
GnRH | LH | FSH | Estradiol | Testosterone | Lack of secondary sexual characteristics | Amenorrhea | Webbed neck | Final height | |||
Turner's syndrome | ↓ | ↑ | ↑ | ↓ | - | + | + | + | ↓ | Bicuspid aortic valve | |
Delayed puberty | Primary hypogonadism | ↑ | ↑ | ↑ | ↓ | ↓ | + | + | - | ↓ | - |
Secondary hypogonadism | ↓ | ↓ | ↓ | ↓ | ↓ | + | + | - | ↓ | - | |
Constitutional delay of puberty | Nl | Nl | Nl | Nl | Nl | + | + | - | Nl | Normal puberty, finally | |
Hypopituitarism | ↑ | ↓ | ↓ | ↓ | ↓ | + | + | - | ↓ | - | |
Noonan's syndrome | ↓ | ↑ | ↑ | - | ↓ | + | - | + | Nl | Mitral valve prolapse | |
Outflow tract obstruction | Nl | Nl | Nl | Nl | Nl | - | + | - | Nl | Imperforate hymen
Bulging hymen with hematocolpos | |
Mayer-Rokitansky-Kuster-Hauser syndrome | Nl | Nl | Nl | Nl | Nl | - | + | - | Nl | Variable absence of Mullerian structures in pelvic ultrasound |
Other differentials
Turner syndrome must be differentiated from other similar conditions which lead to multiple endocrine disorders such as autoimmune polyendocrine syndrome, POEMS syndrome, Hirata syndrome, Kearns–Sayre syndrome and Wolfram syndromes.[2][3][4][5][6]
Disease | Addison's disease | Type 1 diabetes mellitus | Hypothyroidism | Other disorders present |
---|---|---|---|---|
APS type 1 | + | Less common | Less common | Hypoparathyroidism Candidiasis Hypogonadism |
APS type 2 | + | + | + | Hypogonadism Malabsorption |
APS type 3 | - | + | + | Malabsorption |
Thymoma | + | - | + | Myasthenia gravis Cushing syndrome |
Chromosomal abnormalities (Turner syndrome, Down's syndrome) |
- | + | + | Cardiac dysfunction |
Kearns–Sayre syndrome | - | + | - | Myopathy Hypoparathyroidism Hypogonadism |
Wolfram syndrome | - | + | - | Diabetes insipidus Optic atrophy Deafness |
POEMS syndrome | - | + | - | Polyneuropathy Hypogonadism Plasma cell dyscrasias |
References
- ↑ Blondell RD, Foster MB, Dave KC (1999). "Disorders of puberty". Am Fam Physician. 60 (1): 209–18, 223–4. PMID 10414639.
- ↑ Sherer Y, Bardayan Y, Shoenfeld Y (1997). "Thymoma, thymic hyperplasia, thymectomy and autoimmune diseases (Review)". Int. J. Oncol. 10 (5): 939–43. PMID 21533467.
- ↑ Nozza, Andrea (2017). "POEMS SYNDROME: AN UPDATE". Mediterranean Journal of Hematology and Infectious Diseases. 9 (1): e2017051. doi:10.4084/mjhid.2017.051. ISSN 2035-3006.
- ↑ Maceluch JA, Niedziela M (2006). "The clinical diagnosis and molecular genetics of kearns-sayre syndrome: a complex mitochondrial encephalomyopathy". Pediatr Endocrinol Rev. 4 (2): 117–37. PMID 17342029.
- ↑ Rigoli L, Di Bella C (2012). "Wolfram syndrome 1 and Wolfram syndrome 2". Curr. Opin. Pediatr. 24 (4): 512–7. doi:10.1097/MOP.0b013e328354ccdf. PMID 22790102.
- ↑ Husebye, Eystein S.; Anderson, Mark S. (2010). "Autoimmune Polyendocrine Syndromes: Clues to Type 1 Diabetes Pathogenesis". Immunity. 32 (4): 479–487. doi:10.1016/j.immuni.2010.03.016. ISSN 1074-7613.