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Abnormal external genitalia

MedGen UID:
871335
Concept ID:
C4025825
Anatomical Abnormality
HPO: HP:0000811

Conditions with this feature

Chromosome 1p36 deletion syndrome
MedGen UID:
334629
Concept ID:
C1842870
Disease or Syndrome
The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental retardation (Shapira et al., 1997). Monosomy 1p36 is the most common terminal deletion syndrome in humans, occurring in 1 in 5,000 births (Shaffer and Lupski, 2000; Heilstedt et al., 2003). See also neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH; 616975), which shows overlapping features and is caused by heterozygous mutation in the RERE gene (605226) on proximal chromosome 1p36. See also Radio-Tartaglia syndrome (RATARS; 619312), caused by mutation in the SPEN gene (613484) on chromosome 1p36, which shows overlapping features.
Mullerian aplasia and hyperandrogenism
MedGen UID:
390686
Concept ID:
C2675014
Disease or Syndrome
Müllerian aplasia and hyperandrogenism is a condition that affects the reproductive system in females. This condition is caused by abnormal development of the Müllerian ducts, which are structures in the embryo that develop into the uterus, fallopian tubes, cervix, and the upper part of the vagina. Individuals with Müllerian aplasia and hyperandrogenism typically have an underdeveloped or absent uterus and may also have abnormalities of other reproductive organs. Women with this condition have normal female external genitalia, and they develop breasts and pubic hair normally at puberty; however, they do not begin menstruation by age 16 (primary amenorrhea) and will likely never have a menstrual period. Affected women are unable to have children (infertile).\n\nWomen with Müllerian aplasia and hyperandrogenism have higher-than-normal levels of male sex hormones called androgens in their blood (hyperandrogenism), which can cause acne and excessive facial hair (facial hirsutism). Kidney abnormalities may be present in some affected individuals.

Professional guidelines

PubMed

Shrivastava SB, Agrawal G, Mittal M, Mishra P
Rev Recent Clin Trials 2015;10(4):289-97. doi: 10.2174/1574887110666150923112958. PMID: 26411952
Pérez-López FR, Hita-Contreras F
Climacteric 2014 Dec;17(6):654-6. Epub 2014 Jul 4 doi: 10.3109/13697137.2014.912263. PMID: 24716710
Hatipoğlu N, Kurtoğlu S
J Clin Res Pediatr Endocrinol 2013;5(4):217-23. doi: 10.4274/Jcrpe.1135. PMID: 24379029Free PMC Article

Recent clinical studies

Etiology

Duan Y, Zheng W, Xia Y, Zhang H, Liang L, Wang R, Yang Y, Zhang K, Lu D, Sun Y, Han L, Yu Y, Gu X, Sun Y, Xiao B, Qiu W
J Med Genet 2023 Dec 21;61(1):27-35. doi: 10.1136/jmg-2022-108952. PMID: 37586839
Thorup J, Cortes D
Eur J Pediatr Surg 2016 Oct;26(5):427-431. Epub 2016 Sep 2 doi: 10.1055/s-0036-1592138. PMID: 27589079
Zhu H, Liu W, Han B, Fan M, Zhao S, Wang H, Lu Y, Pan C, Chen F, Chen M, Song H, Cheng K, Qiao J
Clin Endocrinol (Oxf) 2014 Nov;81(5):711-20. Epub 2014 Apr 21 doi: 10.1111/cen.12456. PMID: 24665940
Jenkins D, Baynam G, De Catte L, Elcioglu N, Gabbett MT, Hudgins L, Hurst JA, Jehee FS, Oley C, Wilkie AO
Hum Mutat 2011 Apr;32(4):E2069-78. Epub 2011 Feb 8 doi: 10.1002/humu.21457. PMID: 21412941Free PMC Article
Cortes D, Thorup JM, Visfeldt J
Horm Res 2001;55(1):21-7. doi: 10.1159/000049959. PMID: 11423738

Diagnosis

Duan Y, Zheng W, Xia Y, Zhang H, Liang L, Wang R, Yang Y, Zhang K, Lu D, Sun Y, Han L, Yu Y, Gu X, Sun Y, Xiao B, Qiu W
J Med Genet 2023 Dec 21;61(1):27-35. doi: 10.1136/jmg-2022-108952. PMID: 37586839
Thorup J, Cortes D
Eur J Pediatr Surg 2016 Oct;26(5):427-431. Epub 2016 Sep 2 doi: 10.1055/s-0036-1592138. PMID: 27589079
Zhu H, Liu W, Han B, Fan M, Zhao S, Wang H, Lu Y, Pan C, Chen F, Chen M, Song H, Cheng K, Qiao J
Clin Endocrinol (Oxf) 2014 Nov;81(5):711-20. Epub 2014 Apr 21 doi: 10.1111/cen.12456. PMID: 24665940
Mesrobian HG, Balcom AH, Durkee CT
Pediatr Clin North Am 2004 Aug;51(4):1051-62, x. doi: 10.1016/j.pcl.2004.03.016. PMID: 15275988
Cortes D, Thorup JM, Visfeldt J
Horm Res 2001;55(1):21-7. doi: 10.1159/000049959. PMID: 11423738

Therapy

Thorup J, Cortes D
Eur J Pediatr Surg 2016 Oct;26(5):427-431. Epub 2016 Sep 2 doi: 10.1055/s-0036-1592138. PMID: 27589079
Bakare TI, Sowande OA, Adejuyigbe OO, Chinda JY, Usang UE
Afr J Paediatr Surg 2009 Jan-Jun;6(1):28-30. doi: 10.4103/0189-6725.48572. PMID: 19661662
Hurtig AL, Radhakrishnan J, Reyes HM, Rosenthal IM
J Pediatr Surg 1983 Dec;18(6):887-93. doi: 10.1016/s0022-3468(83)80042-6. PMID: 6663420

Prognosis

Thorup J, Cortes D
Eur J Pediatr Surg 2016 Oct;26(5):427-431. Epub 2016 Sep 2 doi: 10.1055/s-0036-1592138. PMID: 27589079
Braslavsky D, Grinspon RP, Ballerini MG, Bedecarrás P, Loreti N, Bastida G, Ropelato MG, Keselman A, Campo S, Rey RA, Bergadá I
Horm Res Paediatr 2015;84(5):289-97. Epub 2015 Sep 11 doi: 10.1159/000439051. PMID: 26355950
Zhu H, Liu W, Han B, Fan M, Zhao S, Wang H, Lu Y, Pan C, Chen F, Chen M, Song H, Cheng K, Qiao J
Clin Endocrinol (Oxf) 2014 Nov;81(5):711-20. Epub 2014 Apr 21 doi: 10.1111/cen.12456. PMID: 24665940
Bakare TI, Sowande OA, Adejuyigbe OO, Chinda JY, Usang UE
Afr J Paediatr Surg 2009 Jan-Jun;6(1):28-30. doi: 10.4103/0189-6725.48572. PMID: 19661662
Shrestha GK, Ikoma F, Schumacher S, Salge S, Miyamoto I, Shimada K
Int Urol Nephrol 1994;26(3):283-91. doi: 10.1007/BF02768211. PMID: 7960539

Clinical prediction guides

Braslavsky D, Grinspon RP, Ballerini MG, Bedecarrás P, Loreti N, Bastida G, Ropelato MG, Keselman A, Campo S, Rey RA, Bergadá I
Horm Res Paediatr 2015;84(5):289-97. Epub 2015 Sep 11 doi: 10.1159/000439051. PMID: 26355950
Jenkins D, Baynam G, De Catte L, Elcioglu N, Gabbett MT, Hudgins L, Hurst JA, Jehee FS, Oley C, Wilkie AO
Hum Mutat 2011 Apr;32(4):E2069-78. Epub 2011 Feb 8 doi: 10.1002/humu.21457. PMID: 21412941Free PMC Article
Chemaitilly W, Goldenberg A, Baujat G, Thibaud E, Cormier-Daire V, Abadie V
Horm Res 2003;59(5):254-6. doi: 10.1159/000070226. PMID: 12714790
Shrestha GK, Ikoma F, Schumacher S, Salge S, Miyamoto I, Shimada K
Int Urol Nephrol 1994;26(3):283-91. doi: 10.1007/BF02768211. PMID: 7960539
Moerman P, Verbeken E, Fryns JP, Goddeeris P, Lauweryns JM
Hum Genet 1982;62(3):240-5. doi: 10.1007/BF00333528. PMID: 6132872

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