Mixed gonadal dysgenesis associated with an isodicentric Y chromosome

Ságodi, László; Sólyom, Enikő; Tóth, András; Kékesi, Anna; Tardy, Erika P.; Borbás, Éva; Rétfalvi, Teofil; Korcsmáros, Anikó

doi:10.1556/oh.2007.28108

Cited by 5 publications

(3 citation statements)

References 12 publications

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“…In case of the decision to convert to male gender, female ductal structures should be removed. If the child’s phallus is small, she would function better as a female; therefore, the testis should be removed [2,5,15] . Normal right side testis in our patient produced adequate testosterone to enhance puberty and body shape formation.…”

Section: Discussionmentioning

confidence: 99%

“…MGD, a disorder of sex development (DSD), is defined in individuals who typically have a differentiated gonad on one side and a streak gonad or streak testis (usually intra-abdominal) on the other side. Persistent Müllerian structures such as the ovary or uterus may also be present [2] . However, true hermaphroditism (TH) cases have both unequivocal ovarian tissue and testicular elements independent to their karyotypes.…”

Section: Introductionmentioning

confidence: 99%

“…Sex chromosome mosaicism (45, XO/46, XY) is the most common karyotype expressed in MGD and may cause formation of a dysgenetic or malformed gonad. This is referred to as a streak gonad that does not produce enough testosterone [2,5] . Ambiguous genitalia is the most common presentation for individuals with a 45X/46XY karyotype accounting for about 60% of involved individuals [6] .…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

A rare case of mixed gonadal dysgenesis with mosaicism 45, X/46, X, +mar

Soheilipour

Abed

Behnam

et al. 2015

International Journal of Surgery Case Reports

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

A rare case of mixed gonadal dysgenesis with mosaicism 45, X/46, X, +mar

Soheilipour

Abed

Behnam

et al. 2015

International Journal of Surgery Case Reports

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show abstract

Mixed gonadal dysgenesis in a patient with de novo tas(Y;19)(p11.3;q13.4) and 45,X mosaicism

et al. 2013

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We report a patient with a de novo telomeric association between chromosomes 19 and Y in conjunction with mixed gonadal dysgenesis. The patient was first admitted to the clinic because of abnormal external genitalia. Laparoscopic evaluation revealed (1) a rudimentary uterus, one fallopian tube, and a small gonad resembling an ovary on the right side, and (2) an immature fallopian tube, a vas deferens, and a gonad resembling a testis on the left side. Conventional cytogenetic analysis performed on cultivated peripheral blood cells, and tissue obtained from the phallus and a gonadal structure which resembled a testis revealed two different cell lines with the 46,X,tas (Y;19)(p11.3;q13.4) and 45,X karyotype. Y chromosome microdeletion analysis showed that the patient did not have any genomic deletions in the AZFa, b, c, or SRY regions on the long arm of the Y chromosome. This is the first report of a patient with mixed gonadal dysgenesis that is accompanied by a telomeric association between chromosomes 19 and Y with 45,X mosaicism.

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Dysgenetic male pseudohermaphroditism

et al. 2012

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The authors report a case of a dysgenetic male pseudohermaphroditism with a 45,X/46,XY karyotype in a mosaic form, which was diagnosed in an infant. The one-week-old infant was evaluated because of proximal hypospadias and retention of the right testis. The results of hormonal tests were the followings: serum FSH 5.2 mU/ml; LH: 2.0 mU/ml; testosterone: 144.3 ng/dl; androstendione: 0.42 µg/l; 17-hydroxyprogesterone: 1.12 ng/ml. Chromosomal analysis revealed 45,X/46,XY karyotype. Fluorescent in vitro hybridization showed that 51% of the lymphocytes had the Y chromosome and the SRY gene. Analysis of the SRY showed no deletion in the AZF a,b,c regions. Pelvic magnetic resonance imaging indicated the presence of vagina between the bladder and the rectum, and it showed a mass measuring 15×8 mm in the right inguinal canal as well as an oval gonadal mass with a size of 13×7 mm in the left scrotum. During surgical intervention, performed at the age of one, the right gonad was removed and biopsy of the scrotal testis was performed. Histological examination revealed dysgenetic testis in both sides. The authors emphasize the necessity of cytogenetic and endocrinological investigations of newborns with perineoscrotal hypospadia and bilateral or unilateral maldescent testes immediately after birth. Surgical removal of the dysgenetic testicular tissue located in the abdominal cavity and its histological evaluation provides separation of mixed gonadal dysgenesis, dysgenetic male pseudohermaphroditism, bilateral gonadal dysgenesis and ovotestis in the 45,X/46,XY mosaic cases. An accurate evaluation is necessary for a correct sex assignment and for surgical intervention to prevent neoplastic degeneration of the dysgenetic gonad.

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Mixed gonadal dysgenesis associated with an isodicentric Y chromosome

Cited by 5 publications

References 12 publications

A rare case of mixed gonadal dysgenesis with mosaicism 45, X/46, X, +mar

A rare case of mixed gonadal dysgenesis with mosaicism 45, X/46, X, +mar

Mixed gonadal dysgenesis in a patient with de novo tas(Y;19)(p11.3;q13.4) and 45,X mosaicism

Dysgenetic male pseudohermaphroditism

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