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Female pseudohermaphroditism

MedGen UID:
65964
Concept ID:
C0238394
Congenital Abnormality
Synonyms: Female Pseudohermaphroditism; Female Pseudohermaphroditisms; Pseudohermaphroditism, Female; Pseudohermaphroditisms, Female
SNOMED CT: Female pseudohermaphroditism (8800006); Ferms (8800006); Gynandrism (8800006)
 
HPO: HP:0010458

Definition

Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized. [from HPO]

Conditions with this feature

Aromatase deficiency
MedGen UID:
743307
Concept ID:
C1960539
Disease or Syndrome
Aromatase deficiency is a rare autosomal recessive disorder in which individuals cannot synthesize endogenous estrogens. If a fetus lacks aromatase activity, dehydroepiandrosterone sulfate produced by the fetal adrenal glands cannot be converted to estrogen by the placenta, and is converted to testosterone peripherally and results in virilization of both fetus and mother. Virilization manifests as pseudohermaphroditism in female infants, with hirsutism and acne in the mother; the maternal indicators resolve following delivery. Affected females are usually diagnosed at birth because of the pseudohermaphroditism. Cystic ovaries and delayed bone maturation can occur during childhood and adolescence in these girls, who present at puberty with primary amenorrhea, failure of breast development, virilization, and hypergonadotropic hypogonadism. Affected males do not present with obvious defects at birth. Their clinical symptoms include tall stature, delayed skeletal maturation, delayed epiphyseal closure, bone pain, eunuchoid body proportions, and excess adiposity. Estrogen replacement therapy reverses the symptoms in males and females (summary by Jones et al., 2007).

Professional guidelines

PubMed

Bidarkar SS, Hutson JM
Semin Pediatr Surg 2005 May;14(2):118-23. doi: 10.1053/j.sempedsurg.2005.01.008. PMID: 15846569
Mathur R, Kabra M, Menon PS
Natl Med J India 2001 Jan-Feb;14(1):26-31. PMID: 11242695
Meyers-Seifer CH, Charest NJ
Semin Perinatol 1992 Oct;16(5):332-9. PMID: 1485189

Recent clinical studies

Etiology

Ye J, Yu Z, Ding J, Chen Y, Huang J, Yao Y, Xiao H, Yang J, Shen Y, Meng Q
Biochem Biophys Res Commun 2006 Sep 22;348(2):507-13. Epub 2006 Jul 28 doi: 10.1016/j.bbrc.2006.07.097. PMID: 16890204
Nimkarn S, Likitmaskul S, Sangacharoenkit P, Pathomvanich A, Sawathiparnich P, Wacharasindhu S, Punnakanta L, Angsusingha K, Tuchinda C
J Med Assoc Thai 2002 Aug;85 Suppl 2:S496-505. PMID: 12403225
Cheikhelard A, Luton D, Philippe-Chomette P, Leger J, Vuillard E, Garel C, Polak M, Nessmann C, Aigrain Y, El-Ghoneimi A
J Urol 2000 Sep;164(3 Pt 2):984-7. doi: 10.1097/00005392-200009020-00016. PMID: 10958723
Krstić Z, Perovic S, Radmanović S, Necić S, Smoljanić Z, Jevtić P
J Pediatr Surg 1995 Sep;30(9):1273-81. doi: 10.1016/0022-3468(95)90484-0. PMID: 8523224
Karaviti LP, Mercado AB, Mercado MB, Speiser PW, Buegeleisen M, Crawford C, Antonian L, White PC, New MI
J Steroid Biochem Mol Biol 1992 Mar;41(3-8):445-51. doi: 10.1016/0960-0760(92)90370-x. PMID: 1562517

Diagnosis

Onesti MG, Maruccia M, Sorvillo V, Parisi P, Fanelli B, Ruggieri M, Manganaro L, Scuderi N
Ann Ital Chir 2014 Sep-Oct;85(5):454-8. PMID: 25599724
Kırlı EA, Karnak İ, Ciftci AO, Kandemir N, Tanyel FC, Şenocak ME
Pediatr Surg Int 2013 Jul;29(7):719-24. Epub 2013 Apr 27 doi: 10.1007/s00383-013-3319-3. PMID: 23624815
De Sanctis L, Giuffrè M
Minerva Pediatr 2010 Jun;62(3 Suppl 1):193-5. PMID: 21089740
González R, Piaggio LA
Curr Opin Urol 2006 Jul;16(4):273-6. doi: 10.1097/01.mou.0000232049.89589.30. PMID: 16770127
Anhalt H, Neely EK, Hintz RL
Pediatr Rev 1996 Jun;17(6):213-20. doi: 10.1542/pir.17-6-213. PMID: 8857201

Therapy

Ye J, Yu Z, Ding J, Chen Y, Huang J, Yao Y, Xiao H, Yang J, Shen Y, Meng Q
Biochem Biophys Res Commun 2006 Sep 22;348(2):507-13. Epub 2006 Jul 28 doi: 10.1016/j.bbrc.2006.07.097. PMID: 16890204
Di Benedetto V, Gioviale M, Bagnara V, Cacciaguerra S, Di Benedetto A
J Urol 1997 Jan;157(1):330-2. PMID: 8976291
Anhalt H, Neely EK, Hintz RL
Pediatr Rev 1996 Jun;17(6):213-20. doi: 10.1542/pir.17-6-213. PMID: 8857201
Karaviti LP, Mercado AB, Mercado MB, Speiser PW, Buegeleisen M, Crawford C, Antonian L, White PC, New MI
J Steroid Biochem Mol Biol 1992 Mar;41(3-8):445-51. doi: 10.1016/0960-0760(92)90370-x. PMID: 1562517
Bierich JR
Helv Paediatr Acta 1974;Suppl 34:87-97. PMID: 4616023

Prognosis

De Sanctis L, Giuffrè M
Minerva Pediatr 2010 Jun;62(3 Suppl 1):193-5. PMID: 21089740
Bidarkar SS, Hutson JM
Semin Pediatr Surg 2005 May;14(2):118-23. doi: 10.1053/j.sempedsurg.2005.01.008. PMID: 15846569
Mathur R, Kabra M, Menon PS
Natl Med J India 2001 Jan-Feb;14(1):26-31. PMID: 11242695
Cheikhelard A, Luton D, Philippe-Chomette P, Leger J, Vuillard E, Garel C, Polak M, Nessmann C, Aigrain Y, El-Ghoneimi A
J Urol 2000 Sep;164(3 Pt 2):984-7. doi: 10.1097/00005392-200009020-00016. PMID: 10958723
Krstić Z, Perovic S, Radmanović S, Necić S, Smoljanić Z, Jevtić P
J Pediatr Surg 1995 Sep;30(9):1273-81. doi: 10.1016/0022-3468(95)90484-0. PMID: 8523224

Clinical prediction guides

Onesti MG, Maruccia M, Sorvillo V, Parisi P, Fanelli B, Ruggieri M, Manganaro L, Scuderi N
Ann Ital Chir 2014 Sep-Oct;85(5):454-8. PMID: 25599724
Bajpai A, Kabra M, Menon PS
Indian Pediatr 2004 Dec;41(12):1226-32. PMID: 15623903
Pinhas-Hamiel O, Zalel Y, Smith E, Mazkereth R, Aviram A, Lipitz S, Achiron R
J Clin Endocrinol Metab 2002 Oct;87(10):4547-53. doi: 10.1210/jc.2001-011034. PMID: 12364433
Cheikhelard A, Luton D, Philippe-Chomette P, Leger J, Vuillard E, Garel C, Polak M, Nessmann C, Aigrain Y, El-Ghoneimi A
J Urol 2000 Sep;164(3 Pt 2):984-7. doi: 10.1097/00005392-200009020-00016. PMID: 10958723
Schardein JL
Teratology 1980 Dec;22(3):251-70. doi: 10.1002/tera.1420220302. PMID: 7015547

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