mixed gonadal dysgenesis

Summary

Summary: A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution.

Top Publications

  1. Caglayan A, Demiryilmaz F, Kendirci M, Ozyazgan I, Akalin H, Bittmann S. Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype. Genet Couns. 2009;20:173-9 pubmed
    To present the new karyotype with mixed gonadal dysgenesis, the aetiologic approach and difficulties in genetic counseling in mosaic sex chromosome disorders. We report a fourteen-year-old boy presented with slightly ambigious genitalia...
  2. Kim K, Kwon Y, Joung J, Kim K, Ayala A, Ro J. True hermaphroditism and mixed gonadal dysgenesis in young children: a clinicopathologic study of 10 cases. Mod Pathol. 2002;15:1013-9 pubmed
    ..who have both unequivocal ovarian tissue and testicular elements regardless of their karyotypes; whereas mixed gonadal dysgenesis (MGD) refers to individuals who usually have a differentiated gonad on one side and a streak gonad or ..
  3. Ocal G, Berberoglu M, Siklar Z, Bilir P. Gender dysphoria and gender change in an adolescent with 45,X/46,XY mixed gonadal dysgenesis. Exp Clin Endocrinol Diabetes. 2009;117:301-4 pubmed publisher
    ..Sufficient brain virilisation associated with undervirilised external genitalia is an important problem for assignment of gender identity...
  4. Preusser S, Diener P, l Allemand Jander D, Schmid S, Leippold T, Brandle M, et al. Scrotal hysterectomy in a male patient with mixed gonadal dysgenesis 46,XY(75%)/45,X(25%). Urology. 2007;70:1223.e7-9 pubmed
    ..whom endocrinological investigation owing to dysmorphic signs characteristic for Turner syndrome revealed mixed gonadal dysgenesis. The patient was referred to us for further diagnostic investigations on a right intrascrotal tumour...
  5. Okuhara K, Tajima T, Nakae J, Fujieda K. A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal. J Hum Genet. 2000;45:112-4 pubmed
    ..Further, this amino acid, Asn, is a conserved residue among mammalian SRY genes. These findings indicate that this amino acid substitution may be responsible for the sex reversal in this patient...
  6. Stankiewicz P, Helias Rodzewicz Z, Jakubow Durska K, Bocian E, Obersztyn E, Rappold G, et al. Cytogenetic and molecular characterization of two isodicentric Y chromosomes. Am J Med Genet. 2001;101:20-5 pubmed
    ..Possible mechanisms of formation of abnormal Y chromosomes and karyotype-phenotype correlations are discussed...
  7. Ogur G, Pinarli F, Dagdemir A, Artan S, Artürk E, Elli M, et al. Germ cell tumor showing partial trisomy 1 in a gonadectomized intersex child with monosomy X and double Y mosaicism. J Pediatr Hematol Oncol. 2006;28:750-4 pubmed
    ..Tumor karyotype showed partial trisomy 1q, a derivative 8q, and a hyperdiploidy with +X, +7, +12, +15, +19, +21, and an unidentified marker...
  8. Shinawi M, Cain M, VanderBrink B, Grignon D, Mensing D, Cooper M, et al. Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter?. Am J Med Genet A. 2010;152A:1832-7 pubmed publisher
    ..a phenotypic and cytogenetic characterization of an apparently male patient with ambiguous genitalia and mixed gonadal dysgenesis who was found to be mosaic 45,X/46,X,idic(Y)...
  9. Dobkin C, Radu G, Ding X, Brown W, Nolin S. Fragile X prenatal analyses show full mutation females at high risk for mosaic Turner syndrome: fragile X leads to chromosome loss. Am J Med Genet A. 2009;149A:2152-7 pubmed publisher
    ..Moreover, they suggest that the presence of the fragile X full mutation on a chromosome may predispose it to loss during mitosis, possibly due to the altered structure of the metaphase fragile X chromosome...

More Information

Publications62

  1. Akbas E, Mutluhan H, Savasoglu K, Soylemez F, Ozturk I, Yazici G. Turner syndrome and 45,X/47,XXX mosaicism. Genet Couns. 2009;20:141-6 pubmed
    ..To our knowledge, this is the first case of mosaic 45,X/47,XXX in Turkey...
  2. Pepene C, Coman I, Mihu D, Militaru M, Duncea I. Infertility in a new 46, XX male with positive SRY confirmed by fluorescence in situ hybridization: a case report. Clin Exp Obstet Gynecol. 2008;35:299-300 pubmed
    ..Despite early subtle clinical signs of abnormal sexual development in this new 46, XX male syndrome, medical investigations were triggered by infertility...
  3. Telvi L, Lebbar A, Del Pino O, Barbet J, Chaussain J. 45,X/46,XY mosaicism: report of 27 cases. Pediatrics. 1999;104:304-8 pubmed
    ..To date, only a few series have been reported. An accurate diagnosis in these patients is essential not only to their follow-up, but also to providing appropriate genetic counselling and subsequent prenatal diagnosis to their parents...
  4. Mizuno K, Kojima Y, Tozawa K, Sasaki S, Hayashi Y, Kohri K. Molecular evaluation of the SRY gene for gonads of patients with mixed gonadal dysgenesis. Int J Urol. 2005;12:673-6 pubmed
    To determine whether the SRY gene is present in the gonads of patients with mixed gonadal dysgenesis (MGD).
  5. Marshall I, Betensky B, Goseco A, Vogiatzi M, Flieder D. Fragile X and mosaic 45,X/46,XY mixed gonadal dysgenesis in a girl with ambiguous genitalia. Am J Med Genet A. 2004;124A:213-5 pubmed
  6. Yu T. The character of variant persistent müllerian-duct structures. Pediatr Surg Int. 2002;18:455-8 pubmed
    ..one patient with persistent müllerian-duct syndrome, one with transverse testicular ectopia, two with mixed gonadal dysgenesis, and one with a müllerian-duct cyst...
  7. Segal N. Opposite-sex twins: when they marry; research reviews: familial twinning, twin study of food neophobia, and monozygotic twins discordant for phenotypic sex; human interest: the cave of romulus and remus, twin politicians in Poland, and parents of twi. Twin Res Hum Genet. 2008;11:236-9 pubmed publisher
    ..This overview is followed by summaries of recent studies of familial twinning, food neophobia and monozygotic twins discordant for phenotypic sex. Several topics of general interest are also presented...
  8. Raff R, Schubert R, Schwanitz G, van der Ven K, Bruhl P. Combination of hypospadias and maldescended testis as cardinal symptoms in gonosomal chromosome aberrations. Eur J Pediatr Surg. 2000;10:270-5 pubmed
    ..In consequence of this chromosomal aberration the patient had mixed gonadal dysgenesis which is associated with an increased risk of tumor development in the aberrant gonads...
  9. Gole L, Lim J, Crolla J, Loke K. Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis. Singapore Med J. 2008;49:349-51 pubmed
  10. Cadeddu J, Watumull L, Corwin T, McConnell J. Laparoscopic gonadectomy and excision of müllerian remnant in an adult intersex patient. Urology. 2001;57:554 pubmed
    ..We report a rare case in which laparoscopic gonadectomy and hysterosalpingectomy were performed in a phenotypically-male intersex patient first diagnosed in adulthood...
  11. Hes F, Madan K, Rombout Liem I, Szuhai K, Sørensen H, van Amstel H, et al. Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease. Am J Med Genet A. 2009;149A:2231-5 pubmed publisher
    ..The identification of multiple causes in a single patient may complicate explaining the disorder and genetic counseling...
  12. Chertin B, Koulikov D, Alberton J, Hadas Halpern I, Reissman P, Farkas A. The use of laparoscopy in intersex patients. Pediatr Surg Int. 2006;22:405-8 pubmed
    ..In three patients with mixed gonadal dysgenesis (MGD) gonadal biopsy was performed...
  13. Lopez Valdes J, Nieto K, Najera N, Cervantes A, Kofman Alfaro S, Queipo G. Mix gonadal dysgenesis associated with ring Y chromosome mosaics in a phenotypic male. Sex Dev. 2009;3:177-82 pubmed publisher
    ..Clinical, surgical, and molecular evidence was sufficient for a diagnosis of mixed gonadal dysgenesis. We suggest that a detailed cytogenetic and molecular analysis should be done in all males with bilateral ..
  14. Queipo G, Nieto K, Grether P, Frias S, Alvarez R, Palma I, et al. Unusual mixed gonadal dysgenesis associated with Müllerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotype. Am J Med Genet A. 2005;136A:386-9 pubmed
    b>Mixed gonadal dysgenesis (MGD) is a developmental anomaly in which most of the patients have a dysgenetic testis, a contralateral streak and a 45,X/46,XY karyotype...
  15. Kryger J, Gonzalez R. Urinary continence is well preserved after total urogenital mobilization. J Urol. 2004;172:2384-6 pubmed
    ..To our knowledge the long-term effects on continence, voiding pattern and bowel control have not been published. We present our experience and assessment regarding these issues...
  16. Andrade J, Guerra Junior G, Maciel Guerra A. 46,XY and 45,X/46,XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis. Arq Bras Endocrinol Metabol. 2010;54:331-4 pubmed
    ..46,XY karyotype after detection of a 45,X cell line and to discuss the difficulties caused by the terms mixed gonadal dysgenesis (MGD) and XY partial gonadal dysgenesis (XYPGD)...
  17. Shapiro O, Welch T, Sheridan M, Stred S, Upadhyay J. Mixed gonadal dysgenesis and Denys-Drash syndrome: urologists should screen for nephrotic syndrome. Can J Urol. 2007;14:3767-9 pubmed
    We present a child with Denys-Drash syndrome recognized after surgery for mixed gonadal dysgenesis, and discuss screening procedures the urologist should consider in similar circumstances.
  18. Al Bassam A, Gado A. Feminizing genital reconstruction: experience with 52 cases of ambiguous genitalia. Eur J Pediatr Surg. 2004;14:172-8 pubmed
    ..In this report, we describe our experience with a total of fifty-two cases of ambiguous genitalia. We understand that this comes in the midst of growing criticism of the Hendren's procedure...
  19. Joshi A, Dillworth M, Carroll D, Chandran H, Parashar K. Laparoscopic excision of Mullerian structures in a neonate with mixed gonadal dysgenesis: a case report. J Laparoendosc Adv Surg Tech A. 2007;17:815-6 pubmed
    ..We report our experience with laparoscopic excision of Mullerian structures in a neonate with mixed gonadal dysgenesis. The salient features of the procedure were excellent visualisation and ease of dissection.
  20. Kriplani A, Agarwal N, Parul -, Sharma M, Manchanda R. Bilateral seminomas in a 45X/46XY mosaic with Turner's phenotype: an unusual case of mixed gonadal dysgenesis. J Obstet Gynaecol Res. 2003;29:63-6 pubmed
    ..Prophylactic laparoscopic gonadectomy was performed and the patient was found to have mixed gonadal dysgenesis with bilateral gonadoblastomas. Microinvasive seminomas were also detected in both gonadoblastomas...
  21. Palma I, Peña R, Contreras A, Ceballos Reyes G, Coyote N, Eraña L, et al. Participation of OCT3/4 and beta-catenin during dysgenetic gonadal malignant transformation. Cancer Lett. 2008;263:204-11 pubmed publisher
    ..Here we analyze seven patients with mixed gonadal dysgenesis and GB, in an effort to elucidate the participation of beta-catenin and E-cadherin, as well as OCT3/4, in ..
  22. Mizuno K, Kojima Y, Kurokawa S, Mizuno H, Kohri K, Hayashi Y. Laparoscopic diagnosis and treatment of a phenotypic girl with mosaic 45,XO/46,X,idic(Y) mixed gonadal dysgenesis. J Pediatr Surg. 2009;44:e1-3 pubmed publisher
    ..experience with laparoscopic gonadal biopsy and gonadectomy for a girl with a dicentric Y chromosome in mixed gonadal dysgenesis (MGD)...
  23. Nonomura K, Moriya K, Tanaka H, Mitsui T. [Mixed gonadal dysgenesis]. Nihon Rinsho. 2006;Suppl 2:539-42 pubmed
  24. Binkhorst M, de Leeuw N, Otten B. A healthy, female chimera with 46,XX/46,XY karyotype. J Pediatr Endocrinol Metab. 2009;22:97-102 pubmed
    ..To account for the normal female appearance of our patient, we postulate the exclusive involvement of 46,XX cells in gonad formation...
  25. Ostrow V, De Luca F. Long term follow-up of a child with ambiguous genitalia, mixed gonadal dysgenesis, and unusual mosaicism. J Pediatr Endocrinol Metab. 2009;22:863-6 pubmed
    b>Mixed gonadal dysgenesis (MGD) is a condition of abnormal and asymmetrical gonadal development. This disorder is typically associated with 45,X/46,XY mosaicism; however, other karyotypes have been rarely reported...
  26. Takano T, Yamanouchi Y, Tanaka F. True hermaphroditism with 46,X,+22p/46,XY and gonadal mosaicism detected by fluorescence in situ hybridization. Ann Genet. 2003;46:57-60 pubmed
    ..The right gonad was revealed as an ovotestis, and the left was as an undifferentiated testis. The gonadal mosaicism was demonstrated directly in gonadal tissue by interphase FISH...
  27. Zaparackaite I, Barauskas V, Nielsen O. Feminising surgery in male pseudohermaphrodites. Pediatr Surg Int. 2004;20:538-42 pubmed
    ..Eighteen patients were affected by androgen insensitivity syndrome, and 16 patients by mixed gonadal dysgenesis. All patients had a Y chromosome, although external genitalia was either typically female or had mixed ..
  28. Nonomura K, Kakizaki H, Shibata T, Moriya K. [Mixed gonadal dysgenesis]. Nihon Rinsho. 2004;62:313-9 pubmed
    ..with sex chromosomal mosaicism manifest diverse phenotypes from phenotypic females and individuals with mixed gonadal dysgenesis (MGD) to males...
  29. Nanni L, D Urzo C, Pintus C, Riccipetitoni G, Perrelli L. Laparoscopic approach to müllerian derivatives in a male with mixed gonadal dysgenesis. Surg Laparosc Endosc Percutan Tech. 2003;13:128-32 pubmed
    ..We report a case of mixed gonadal dysgenesis in which a large prostatic utricle was successfully removed via laparoscopy.
  30. Jacobsen C, Cohen L. Short stature in a phenotypic male caused by mixed gonadal dysgenesis. Nat Clin Pract Endocrinol Metab. 2008;4:524-8 pubmed publisher
    ..Since 4-5 years of age, the patient's height has been below the 3(rd) percentile, whereas his weight has been maintained at approximately the 3(rd) percentile...
  31. Spinner N, Saitta S, Delaney D, Colliton R, Zderic S, Ruchelli E, et al. Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring. Am J Med Genet A. 2008;146A:1828-31 pubmed publisher
    ..This report underscores the need to obtain chromosome analysis in couples with infertility who undergo assisted reproduction...
  32. Szarras Czapnik M, Lew Starowicz Z, Zucker K. A psychosexual follow-up study of patients with mixed or partial gonadal dysgenesis. J Pediatr Adolesc Gynecol. 2007;20:333-8 pubmed
    ..To provide late adolescent and young adult psychosexual follow-up information on a consecutive series of patients with either mixed or partial gonadal dysgenesis...
  33. Anand A, Gupta N, Singh M, Mathur S, Nayyar R. Mixed gonadal dysgenesis with normal karyotype: a rare case report. Indian J Pathol Microbiol. 2010;53:313-5 pubmed publisher
    b>Mixed gonadal dysgenesis (MGD) presents as a unilateral testis, usually intraabdominal, a streak gonad on contralateral side, and persistent mullerian structures...
  34. Canto P, Galicia N, Söderlund D, Escudero I, Mendez J. Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism. Eur J Obstet Gynecol Reprod Biol. 2004;115:55-8 pubmed
    To investigate the presence of mutations in the open reading frame (ORF), as well as on the 5' and 3', flanking regions of the SRY gene in patients with mixed gonadal dysgenesis (MGD) or with Turner syndrome (TS) and Y mosaicism.
  35. Tho S, Jackson R, Kulharya A, Reindollar R, Layman L, McDonough P. Long-term follow-up and analysis of monozygotic twins concordant for 45,X/46,XY peripheral blood karyotype but discordant for phenotypic sex. Am J Med Genet A. 2007;143A:2616-22 pubmed
    ..The 45X cell line is likely due to his receiving these cells passively from his twin sister via placental anastomoses in utero. The exposure to these 45,X cells during development may have had an impact on his spermatogenesis...
  36. Ságodi L, Sólyom E, Toth A, Kékesi A, P Tardy E, Borbas E, et al. [Mixed gonadal dysgenesis associated with an isodicentric Y chromosome]. Orv Hetil. 2007;148:1567-71 pubmed
    Authors report a case of mixed gonadal dysgenesis with a karyotype containing an isodicentric Y chromosome in mosaic form, which was diagnosed in an infant...
  37. Umeoka S, Koyama T, Saga T, Fujiwara T, Kido A, Fukuhara K, et al. Ectopically located gonads in a patient with mixed gonadal dysgenesis: detection by diffusion-weighted MRI. Abdom Imaging. 2005;30:637-40 pubmed
    We report a case of mixed gonadal dysgenesis in which diffusion-weighted magnetic resonance imaging played a major role in the detection of ectopically located gonads...
  38. Jensen A, Grewal H, Dean G, Rezvani I. Pediatric surgical images: mixed gonadal dysgenesis. J Pediatr Surg. 2003;38:988-9 pubmed
  39. Shima H, Yamamoto S. [Hermaphroditism]. Nihon Rinsho. 2006;Suppl 2:561-72 pubmed
  40. Rodrigo L, Peinado V, Mateu E, Remohi J, Pellicer A, Simon C, et al. Impact of different patterns of sperm chromosomal abnormalities on the chromosomal constitution of preimplantation embryos. Fertil Steril. 2010;94:1380-6 pubmed publisher
    ..To evaluate the effect of sperm chromosome abnormalities--disomy for sex chromosomes and diploidy--in the chromosomal constitution of preimplantation embryos...
  41. Adamczak R, Szymański W, Pasińska M, Haus O. [Clinical and cytogenetic evaluation of patients with disorders of somato-sexual development]. Ginekol Pol. 2003;74:925-9 pubmed
    ..28 women with disorders of sexual development were clinically and cytogenetically analyzed...
  42. Bittmann S, Wieczorek D, Stallmach T, Ulus H. 45,X/46,X,dic(Y)-Mosaicism in the newborn. Klin Padiatr. 2005;217:300-3 pubmed
    ..The clinical, cytogenetic, and histological results are described and the prognosis and clinical management of these patients are discussed...
  43. Lähdesmäki R, Alvesalo L. Root growth in the permanent teeth of 45,X/46,XX females. Eur J Orthod. 2006;28:339-44 pubmed
    ..It is suggested that the reduction in crown and root growth in 45,X/4,XX females is due to a deficiency in the amount of dental growth-promoting genes on the sex chromosomes...
  44. Alvarez Nava F, Puerta H, Soto M, Pineda L, Temponi A. High incidence of Y-chromosome microdeletions in gonadal tissues from patients with 45,X/46,XY gonadal dysgenesis. Fertil Steril. 2008;89:458-60 pubmed
    ..It is probable that an association between Y-chromosome microdeletions and severity of the phenotype in 45,X/46,XY patients exists...
  45. Schwab A, Tuohy T, Condie M, Neklason D, Burt R. Gonadal mosaicism and familial adenomatous polyposis. Fam Cancer. 2008;7:173-7 pubmed
    ..Parents who test negative for the mutation should be counseled about the possibility of having another affected child due to gonadal mosaicism...
  46. Schoenhaus S, Lentz S, Saber P, Munro M, Kivnick S. Pregnancy in a hermaphrodite with a male-predominant mosaic karyotype. Fertil Steril. 2008;90:2016.e7-10 pubmed publisher
    ..To report a pregnancy in a hermaphrodite and review of the literature...
  47. Patsalis P. Response to the Alvarez Nava and Puerta "Y-chromosome microdeletions in 45,X/46,XY patients". Am J Med Genet A. 2006;140:1251-2 pubmed
  48. Kalantaridou S, Calis K, Vanderhoof V, Bakalov V, Corrigan E, Troendle J, et al. Testosterone deficiency in young women with 46,XX spontaneous premature ovarian failure. Fertil Steril. 2006;86:1475-82 pubmed
    ..To determine whether women with 46,XX spontaneous premature ovarian failure have lower serum free-T levels than do control women...
  49. Wachtel S, Somkuti S, Schinfeld J. Monozygotic twins of opposite sex. Cytogenet Cell Genet. 2000;91:293-5 pubmed
    ..We studied identical twins with the 46,XY karyotype - a male with mixed gonadal dysgenesis and a female with "pure" gonadal dysgenesis...
  50. Kilic S, Yukse B, Tasdemir N, Dogan M, Ozdemir E, Yesilyurt A, et al. Assisted reproductive treatment applications in men with normal phenotype but 45,X/46,XY mosaic karyotype: clinical and genetic perspectives. Taiwan J Obstet Gynecol. 2010;49:199-202 pubmed publisher
    ..The 45,X/46,XY mosaic karyotype is expressed by a spectrum of genital phenotypes, ranging from normal males through to ambiguous genitalia and to normal females...
  51. Vidal I, Gorduza D, Haraux E, Gay C, Chatelain P, Nicolino M, et al. Surgical options in disorders of sex development (dsd) with ambiguous genitalia. Best Pract Res Clin Endocrinol Metab. 2010;24:311-24 pubmed publisher
    ..DSD essentially represented by hypospadias; and (3) the chromosomic jigsaws essentially represented by mixed gonadal dysgenesis. It is in this last group that gender assignment remains a difficult decision involving various ..
  52. Iliev D, Ranke M, Wollmann H. Mixed gonadal dysgenesis and precocious puberty. Horm Res. 2002;58:30-3 pubmed
    ..The karyotype was 46,XY/45,X. These findings confirmed the diagnosis of mixed gonadal dysgenesis with testosterone-producing gonadoblastoma.
  53. Marrocco G, Poscente M, Majore S, De Bernardo C, Rinaldi R, Del Porto G, et al. Clinical management and molecular cytogenetic characterization in a 45,X/46,X,idic(Yp) patient with severe hypospadia. J Pediatr Surg. 2003;38:1258-62 pubmed
    ..The authors discuss the necessity of a careful evaluation of these patients at birth by a multispecialistic team, for appropriate sex assignment and for the assessment of the risk of neoplastic degeneration...