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]]. | ||
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[[Category:Disease]] | [[Category:Disease]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
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Revision as of 01:30, 9 August 2020
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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 |
Overview
[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].
OR
[Disease name] must be differentiated from [[differential dx1], [differential dx2], and [differential dx3].
Differentiating [Disease name] from other Diseases
[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].
OR
[Disease name] must be differentiated from [differential dx1], [differential dx2], and [differential dx3].
OR
As [disease name] manifests in a variety of clinical forms, differentiation must be established in accordance with the particular subtype. [Subtype name 1] must be differentiated from other diseases that cause [clinical feature 1], such as [differential dx1] and [differential dx2]. In contrast, [subtype name 2] must be differentiated from other diseases that cause [clinical feature 2], such as [differential dx3] and [differential dx4].
Differentiating [disease name] from other diseases on the basis of [symptom 1], [symptom 2], and [symptom 3]
On the basis [symptom 1], [symptom 2], and [symptom 3], [disease name] must be differentiated from [disease 1], [disease 2], [disease 3], [disease 4], [disease 5], and [disease 6].
Diseases | Clinical manifestations | Para-clinical findings | Gold standard | Additional findings | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Symptoms | Physical examination | ||||||||||||||
Lab Findings | Imaging | Histopathology | |||||||||||||
Symptom 1 | Symptom 2 | Symptom 3 | Physical exam 1 | Physical exam 2 | Physical exam 3 | Lab 1 | Lab 2 | Lab 3 | Imaging 1 | Imaging 2 | Imaging 3 | ||||
Differential Diagnosis 1 | |||||||||||||||
Differential Diagnosis 2 | |||||||||||||||
Differential Diagnosis 3 | |||||||||||||||
Diseases | Symptom 1 | Symptom 2 | Symptom 3 | Physical exam 1 | Physical exam 2 | Physical exam 3 | Lab 1 | Lab 2 | Lab 3 | Imaging 1 | Imaging 2 | Imaging 3 | Histopathology | Gold standard | Additional findings |
Differential Diagnosis 4 | |||||||||||||||
Differential Diagnosis 5 | |||||||||||||||
Differential Diagnosis 6 |
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.