Turner syndrome differential diagnosis

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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]


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

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

(imperforate hymen or transverse vaginal septum)

Nl Nl Nl Nl Nl - + - Nl Imperforate hymen

Perirectal mass

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
APS type 2 + + + Hypogonadism
APS type 3 - + + Malabsorption
Thymoma + - + Myasthenia gravis
Cushing syndrome
Chromosomal abnormalities
(Turner syndrome,
Down's syndrome)
- + + Cardiac dysfunction
Kearns–Sayre syndrome - + - Myopathy
Wolfram syndrome - + - Diabetes insipidus
Optic atrophy
POEMS syndrome - + - Polyneuropathy
Plasma cell dyscrasias


  1. Blondell RD, Foster MB, Dave KC (1999). "Disorders of puberty". Am Fam Physician. 60 (1): 209–18, 223–4. PMID 10414639.
  2. Sherer Y, Bardayan Y, Shoenfeld Y (1997). "Thymoma, thymic hyperplasia, thymectomy and autoimmune diseases (Review)". Int. J. Oncol. 10 (5): 939–43. PMID 21533467.
  3. 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.
  4. 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.
  5. 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.
  6. 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.

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