14 year old (24kg) phenotypic female operated 8 days back for 28 wks size torsion of solid (mostly) ovarian tumor in emergency. She also had large cliteromegaly. Clinical diagnosis was dysgerminoma. LDH was very high. Alpha fetoprotein came next day was very high. 'Y' chromosome could not be assessed prop as it was taking at-least 10-15 days. Clitoral reduction was planned but laparotomy had lot of adhesions and most probably she would require another surgery to remove another gonad. Uterus was present with b/l fallopian tubes. Vagina is narrow with separate opening for urethra. Other side gonad was looking streak with a mount on one side. HPR came yesterday - Malignant Mixed germ cell tumor (Dysgerminoma with Yolk sac tumor) and biopsy from other gonad as seminiferous tubule. Surgical stage was Ic. She is planned for chemo followed by clitoral reduction. Karyotype still awaited. 17 Hydroxyprogesterone and testosterone was normal.
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Mixed gonadal dysgenesis (MGD). Her karyotype report is 46XY. She has ovary (dysgenetic as there was germ cell tumor) and Streak testis or ovotestis with cliteromegaly and uterus and vagina. Another differential is True hermaphroditism (TH) which has both well-developed ovarian and testicular tissues. A differential diagnosis between the TH and MGD has important clinical implications for gender assignment and the decision for early gonadectomy; however, variable clinical and histological features frequently lead to the confusion of TH with MGD.
For a differential diagnosis, chromosomal constitutions are not helpful.
Various types of chromosomal abnormalities have been described in cases of TH, such as 46,XX; 46,XY; 46,XX/46,XY; 45X/46,XY; and others. MGD cases also have heterogeneous chromosomal changes but are usually characterized by a 45,X/46,XY; 45,X/47,XYY; or 46,XY karyotype.
Differentiation between TH and MGD is largely dependent on the histological appearances of the gonads. HPR of other gonad in this case revealed atrophic seminiferous tubules.
She is planned for Chemotherapy for Stage Ic ovarian cancer and followed by gonadectomy on other side along with clitoral reduction. Pubertal induction with estrogen will follow after that along with vaginal dilatation 1 year before marriage.
It seems very confusing case. I had operated on a similar girl of 12 some 10 yrs ago...saved the other streak ovary for future fertility and after four cycles of BEP regimen, she is perfectly alright.
There is no biochemical, radiological or clinical recurrence. She is on close follow up and doing good.
It is 46XY , I am of opinion of sir Ganesh Dangal as they respond to chemotherapy and the need close follow up with clinical and tumour markers.
Assuming that she has her Mullerian duct system intact, she most likely has the XY Sex Reversal Syndrome and the karyotype is 46XY. According to the phenotype scale that we developed she sounds as though she is a class 2-3 which is comparable to mixed gonadal dysgenesis. Did you by any chance measure serum testosterone? .
Its a case of Swyer syndrome, nothing else. The tumour biopsy if revised after karyotyping report, could be changed to seminoma and other. Only AMH is absent that's why female phenotype. Its not a case of mixed gonadal gysgenesis. Only point goes against it is clitoromegaly. Repeat karyotyping is an option to confirm it as mixed gonadal dysgenesis. Until or unless there is an extra set of chromosomes of female genotype found, it should be diagnosed as Swyer syndrome. Dysgerminoma or seminoma has same microscopic views. When karyotype is unknown, phenotype is female, ut and ft are present, dysgerminoma is justified, as many cases have been reported. Considering dysgerminoma, gonades should not be thought as ovary or ovotestis, its silly mistake. 17-hydroxy progesterone and testosterone, I am sure, normal in respect to female not male. Clitoromegaly has been reported with Swyer syndrome.
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