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Abnormality of the genital system

MedGen UID:
155422
Concept ID:
C0744356
Finding
Synonym: Genital anomalies
 
HPO: HP:0000078

Definition

An abnormality of the genital system. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of the genital system

Conditions with this feature

Multiple acyl-CoA dehydrogenase deficiency
MedGen UID:
75696
Concept ID:
C0268596
Disease or Syndrome
Multiple acyl-CoA dehydrogenase deficiency (MADD) represents a clinical spectrum in which presentations can be divided into type I (neonatal onset with congenital anomalies), type II (neonatal onset without congenital anomalies), and type III (late onset). Individuals with type I or II MADD typically become symptomatic in the neonatal period with severe metabolic acidosis, which may be accompanied by profound hypoglycemia and hyperammonemia. Many affected individuals die in the newborn period despite metabolic treatment. In those who survive the neonatal period, recurrent metabolic decompensation resembling Reye syndrome and the development of hypertrophic cardiomyopathy can occur. Congenital anomalies may include dysmorphic facial features, large cystic kidneys, hypospadias and chordee in males, and neuronal migration defects (heterotopias) on brain MRI. Individuals with type III MADD, the most common presentation, can present from infancy to adulthood. The most common symptoms are muscle weakness, exercise intolerance, and/or muscle pain, although metabolic decompensation with episodes of rhabdomyolysis can also be seen. Rarely, individuals with late-onset MADD (type III) may develop severe sensory neuropathy in addition to proximal myopathy.
Renal cysts and diabetes syndrome
MedGen UID:
96569
Concept ID:
C0431693
Disease or Syndrome
The 17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder, schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85% to 90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years).
Cerebrooculofacioskeletal syndrome 4
MedGen UID:
342798
Concept ID:
C1853100
Disease or Syndrome
Cerebrooculofacioskeletal syndrome-4 (COFS4) is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, arthrogryposis, and neurologic abnormalities. Cellular studies show a defect in both transcription-coupled and global genome nucleotide excision repair (TC-NER and GG-NER) (summary by Jaspers et al., 2007 and Kashiyama et al., 2013). For a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see 214150.
Mowat-Wilson syndrome
MedGen UID:
341067
Concept ID:
C1856113
Disease or Syndrome
Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression), congenital heart defects with predilection for abnormalities of the pulmonary arteries and/or valves, Hirschsprung disease or chronic constipation, genitourinary anomalies (particularly hypospadias in males), and hypogenesis or agenesis of the corpus callosum. Most affected individuals have moderate-to-severe intellectual disability. Speech is typically limited to a few words or is absent, with relative preservation of receptive language skills. Growth restriction with microcephaly and seizure disorder are also common. Most affected people have a happy demeanor and a wide-based gait that can sometimes be confused with Angelman syndrome.

Professional guidelines

PubMed

Passos IMPE, Britto RL
Taiwan J Obstet Gynecol 2020 Mar;59(2):183-188. doi: 10.1016/j.tjog.2020.01.003. PMID: 32127135
Lacheta J
Ceska Gynekol 2019 Spring;84(3):240-246. PMID: 31324117
Jagasia MH, Greinix HT, Arora M, Williams KM, Wolff D, Cowen EW, Palmer J, Weisdorf D, Treister NS, Cheng GS, Kerr H, Stratton P, Duarte RF, McDonald GB, Inamoto Y, Vigorito A, Arai S, Datiles MB, Jacobsohn D, Heller T, Kitko CL, Mitchell SA, Martin PJ, Shulman H, Wu RS, Cutler CS, Vogelsang GB, Lee SJ, Pavletic SZ, Flowers ME
Biol Blood Marrow Transplant 2015 Mar;21(3):389-401.e1. Epub 2014 Dec 18 doi: 10.1016/j.bbmt.2014.12.001. PMID: 25529383Free PMC Article

Recent clinical studies

Etiology

Mikwar M, MacFarlane AJ, Marchetti F
Mutat Res Rev Mutat Res 2020 Jul-Sep;785:108320. Epub 2020 Jul 4 doi: 10.1016/j.mrrev.2020.108320. PMID: 32800274
van der Horst HJ, de Wall LL
Eur J Pediatr 2017 Apr;176(4):435-441. Epub 2017 Feb 11 doi: 10.1007/s00431-017-2864-5. PMID: 28190103Free PMC Article
Dietrich JE, Millar DM, Quint EH
J Pediatr Adolesc Gynecol 2014 Dec;27(6):386-95. Epub 2014 Jul 17 doi: 10.1016/j.jpag.2014.07.001. PMID: 25438707
Grimbizis GF, Gordts S, Di Spiezio Sardo A, Brucker S, De Angelis C, Gergolet M, Li TC, Tanos V, Brölmann H, Gianaroli L, Campo R
Hum Reprod 2013 Aug;28(8):2032-44. Epub 2013 Jun 14 doi: 10.1093/humrep/det098. PMID: 23771171Free PMC Article
Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article

Diagnosis

Herlin MK, Petersen MB, Brännström M
Orphanet J Rare Dis 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. PMID: 32819397Free PMC Article
Passos IMPE, Britto RL
Taiwan J Obstet Gynecol 2020 Mar;59(2):183-188. doi: 10.1016/j.tjog.2020.01.003. PMID: 32127135
Jacquinet A, Millar D, Lehman A
Am J Med Genet A 2016 Aug;170(8):2141-72. Epub 2016 Jun 8 doi: 10.1002/ajmg.a.37775. PMID: 27273803
Dietrich JE, Millar DM, Quint EH
J Pediatr Adolesc Gynecol 2014 Dec;27(6):386-95. Epub 2014 Jul 17 doi: 10.1016/j.jpag.2014.07.001. PMID: 25438707
Grimbizis GF, Gordts S, Di Spiezio Sardo A, Brucker S, De Angelis C, Gergolet M, Li TC, Tanos V, Brölmann H, Gianaroli L, Campo R
Hum Reprod 2013 Aug;28(8):2032-44. Epub 2013 Jun 14 doi: 10.1093/humrep/det098. PMID: 23771171Free PMC Article

Therapy

Merke DP, Auchus RJ
N Engl J Med 2020 Sep 24;383(13):1248-1261. doi: 10.1056/NEJMra1909786. PMID: 32966723
Herlin MK, Petersen MB, Brännström M
Orphanet J Rare Dis 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. PMID: 32819397Free PMC Article
Ludwin A, Coelho Neto MA, Ludwin I, Nastri CO, Costa W, Acién M, Alcazar JL, Benacerraf B, Condous G, DeCherney A, De Wilde RL, Diamond MP, Emanuel MH, Guerriero S, Hurd W, Levine D, Lindheim S, Pellicer A, Petraglia F, Saridogan E, Martins WP
Ultrasound Obstet Gynecol 2020 Jun;55(6):815-829. Epub 2020 May 15 doi: 10.1002/uog.20845. PMID: 31432589
Jaslow CR
Obstet Gynecol Clin North Am 2014 Mar;41(1):57-86. doi: 10.1016/j.ogc.2013.10.002. PMID: 24491984
Macedo A Jr, Rondon A, Ortiz V
Curr Opin Urol 2012 Nov;22(6):447-52. doi: 10.1097/MOU.0b013e328357bc62. PMID: 23026892

Prognosis

Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article
Hutson JM, Balic A, Nation T, Southwell B
Semin Pediatr Surg 2010 Aug;19(3):215-24. doi: 10.1053/j.sempedsurg.2010.04.001. PMID: 20610195
Leung AK, Robson WL
Asian J Androl 2007 Jan;9(1):16-22. doi: 10.1111/j.1745-7262.2007.00243.x. PMID: 17187155
Toppari J, Kaleva M
Horm Res 1999 Dec;51(6):261-9. doi: 10.1159/000023412. PMID: 10640886
Adkins JC, Kiesewetter WB
Surg Clin North Am 1976 Apr;56(2):379-94. doi: 10.1016/s0039-6109(16)40884-4. PMID: 1265603

Clinical prediction guides

Pfeifer SM, Attaran M, Goldstein J, Lindheim SR, Petrozza JC, Rackow BW, Siegelman E, Troiano R, Winter T, Zuckerman A, Ramaiah SD
Fertil Steril 2021 Nov;116(5):1238-1252. doi: 10.1016/j.fertnstert.2021.09.025. PMID: 34756327
Ludwin A, Coelho Neto MA, Ludwin I, Nastri CO, Costa W, Acién M, Alcazar JL, Benacerraf B, Condous G, DeCherney A, De Wilde RL, Diamond MP, Emanuel MH, Guerriero S, Hurd W, Levine D, Lindheim S, Pellicer A, Petraglia F, Saridogan E, Martins WP
Ultrasound Obstet Gynecol 2020 Jun;55(6):815-829. Epub 2020 May 15 doi: 10.1002/uog.20845. PMID: 31432589
Fitouri F, Chebil N, Ben Ammar S, Sahli S, Hamzaoui M
Fetal Pediatr Pathol 2020 Feb;39(1):90-91. Epub 2019 Jun 19 doi: 10.1080/15513815.2019.1629133. PMID: 31215294
Ludwin A, Martins WP, Nastri CO, Ludwin I, Coelho Neto MA, Leitão VM, Acién M, Alcazar JL, Benacerraf B, Condous G, De Wilde RL, Emanuel MH, Gibbons W, Guerriero S, Hurd WW, Levine D, Lindheim S, Pellicer A, Petraglia F, Saridogan E
Ultrasound Obstet Gynecol 2018 Jan;51(1):101-109. doi: 10.1002/uog.18923. PMID: 29024135
Practice Committee of the American Society for Reproductive Medicine. Electronic address: ASRM@asrm.org; Practice Committee of the American Society for Reproductive Medicine
Fertil Steril 2016 Sep 1;106(3):530-40. Epub 2016 May 25 doi: 10.1016/j.fertnstert.2016.05.014. PMID: 27235766

Recent systematic reviews

Nikiforov D, Grøndahl ML, Hreinsson J, Andersen CY
Reprod Sci 2022 Oct;29(10):2768-2785. Epub 2021 Nov 23 doi: 10.1007/s43032-021-00723-y. PMID: 34816375
Simon L, Emery B, Carrell DT
Adv Exp Med Biol 2019;1166:87-105. doi: 10.1007/978-3-030-21664-1_6. PMID: 31301048
Gunes S, Hekim GN, Arslan MA, Asci R
J Assist Reprod Genet 2016 Apr;33(4):441-54. Epub 2016 Feb 11 doi: 10.1007/s10815-016-0663-y. PMID: 26867640Free PMC Article
Veale D, Miles S, Bramley S, Muir G, Hodsoll J
BJU Int 2015 Jun;115(6):978-86. Epub 2015 Mar 2 doi: 10.1111/bju.13010. PMID: 25487360
Azziz R, Carmina E, Dewailly D, Diamanti-Kandarakis E, Escobar-Morreale HF, Futterweit W, Janssen OE, Legro RS, Norman RJ, Taylor AE, Witchel SF; Task Force on the Phenotype of the Polycystic Ovary Syndrome of The Androgen Excess and PCOS Society
Fertil Steril 2009 Feb;91(2):456-88. Epub 2008 Oct 23 doi: 10.1016/j.fertnstert.2008.06.035. PMID: 18950759

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