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Dorsal hirsutism

MedGen UID:
1814164
•Concept ID:
C5558436
•
Finding
HPO: HP:0034042

Definition

Abnormally increased hair growth in the lskin of the back. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDorsal hirsutism

Conditions with this feature

Intellectual disability, autosomal recessive 43
MedGen UID:
862823
•Concept ID:
C4014386
•
Mental or Behavioral Dysfunction
Autosomal recessive intellectual developmental disorder-43 (MRT43) is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features. Some patients may have significant motor delays (summary by Gangfuss et al., 2022).
See: Condition Record
Intellectual disability, X-linked, syndromic, 35
MedGen UID:
1392054
•Concept ID:
C4478383
•
Disease or Syndrome
See: Condition Record
Intellectual disability, autosomal recessive 43
Intellectual disability, X-linked, syndromic, 35

Recent clinical studies

Etiology

Body imaging and sexual behavior in lean women with polycystic ovary syndrome.
Morotti E, Persico N, Battaglia B, Fabbri R, Meriggiola MC, Venturoli S, Battaglia C
J Sex Med 2013 Nov;10(11):2752-60. Epub 2013 Aug 23 doi: 10.1111/jsm.12284. PMID: 23981769
PCOS and urethrovaginal space: 3-D volumetric and vascular analysis.
Battaglia C, Nappi RE, Mancini F, Alvisi S, Del Forno S, Battaglia B, Venturoli S
J Sex Med 2010 Aug;7(8):2755-64. Epub 2010 Jan 6 doi: 10.1111/j.1743-6109.2009.01651.x. PMID: 20059655
PCOS, sexuality, and clitoral vascularisation: a pilot study.
Battaglia C, Nappi RE, Mancini F, Cianciosi A, Persico N, Busacchi P, Facchinetti F, Sisti G
J Sex Med 2008 Dec;5(12):2886-94. doi: 10.1111/j.1743-6109.2008.01010.x. PMID: 19090942
Coccygeal pits.
Weprin BE, Oakes WJ
Pediatrics 2000 May;105(5):E69. doi: 10.1542/peds.105.5.e69. PMID: 10799633

Diagnosis

PCOS and urethrovaginal space: 3-D volumetric and vascular analysis.
Battaglia C, Nappi RE, Mancini F, Alvisi S, Del Forno S, Battaglia B, Venturoli S
J Sex Med 2010 Aug;7(8):2755-64. Epub 2010 Jan 6 doi: 10.1111/j.1743-6109.2009.01651.x. PMID: 20059655
Absence of Cushingoid phenotype in a patient with Cushing's disease due to defective cortisone to cortisol conversion.
Tomlinson JW, Draper N, Mackie J, Johnson AP, Holder G, Wood P, Stewart PM
J Clin Endocrinol Metab 2002 Jan;87(1):57-62. doi: 10.1210/jcem.87.1.8189. PMID: 11788623
The Floating-Harbor syndrome.
Majewski F, Lenard HG
Eur J Pediatr 1991 Feb;150(4):250-2. doi: 10.1007/BF01955523. PMID: 2029915

Therapy

Absence of Cushingoid phenotype in a patient with Cushing's disease due to defective cortisone to cortisol conversion.
Tomlinson JW, Draper N, Mackie J, Johnson AP, Holder G, Wood P, Stewart PM
J Clin Endocrinol Metab 2002 Jan;87(1):57-62. doi: 10.1210/jcem.87.1.8189. PMID: 11788623

Prognosis

Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis.
Kulkarni S, Nagarajan P, Wall J, Donovan DJ, Donell RL, Ligon AH, Venkatachalam S, Quade BJ
Am J Med Genet A 2008 May 1;146A(9):1117-27. doi: 10.1002/ajmg.a.32178. PMID: 18386809Free PMC Article

Clinical prediction guides

Body imaging and sexual behavior in lean women with polycystic ovary syndrome.
Morotti E, Persico N, Battaglia B, Fabbri R, Meriggiola MC, Venturoli S, Battaglia C
J Sex Med 2013 Nov;10(11):2752-60. Epub 2013 Aug 23 doi: 10.1111/jsm.12284. PMID: 23981769
Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis.
Kulkarni S, Nagarajan P, Wall J, Donovan DJ, Donell RL, Ligon AH, Venkatachalam S, Quade BJ
Am J Med Genet A 2008 May 1;146A(9):1117-27. doi: 10.1002/ajmg.a.32178. PMID: 18386809Free PMC Article
Absence of Cushingoid phenotype in a patient with Cushing's disease due to defective cortisone to cortisol conversion.
Tomlinson JW, Draper N, Mackie J, Johnson AP, Holder G, Wood P, Stewart PM
J Clin Endocrinol Metab 2002 Jan;87(1):57-62. doi: 10.1210/jcem.87.1.8189. PMID: 11788623
Coccygeal pits.
Weprin BE, Oakes WJ
Pediatrics 2000 May;105(5):E69. doi: 10.1542/peds.105.5.e69. PMID: 10799633

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