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

Differentiating Turner’s syndrome from other diseases

Diseases		Laboratory Findings					Physical examinations				Other Findings
Diseases		GnRH	LH	FSH	Estradiol	Testosterone	Lack of secondary sexual characteristics	Amenorrhea	Webbed neck	Final height	Other Findings
Turner’s syndrome		↓	↑	↑	↓	–	+	+	+	↓	Bicuspid aortic valve
Delayed puberty	Primary hypogonadism	↑	↑	↑	↓	↓	+	+	–	↓	–
Delayed puberty	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 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.

Overview