May 2008 - bcps

Gonadoblastoma: Primary Amenorrhoea with Gonadal Dysgenesisabnormality of autosome. Her ultrasonography reportshowed no abnormality of the internal genital organsexcept that the uterus was smaller in size (24mm X12mm X 24mm). Her general biochemicalinvestigation report showed no abnormality.Hormone assays were done which showed low levelof oestrogen & testosterone & high level of FSH &LH. The value of oestrogen & testosterone were 21.1pg/ml & 44 ng/ml respectively.On the other hand thevalue of FSH & LH were 87.40 IU/L & 32.63 IU/Lrespectively. Her clinical diagnosis of primaryamenorrhoea with gonadal dysgenesis was confirmedby these investigation reports. She was then properlycounseled and Examination Under Anesthesia (EUA)& laparoscopy was done on 25 th July, 2006.Laparoscopic examination revealed uterus smaller insize, mobile, anteverted. Cervix & vaginal canalpresent & normal. Both sided gonads were present,size of which were 2cm × 1 cm × .5cm, surfaceirregular. Then laparotomy & bilateral gonadectomywere done. Histopathology of the gonads showed atumor composed of biphasic population of germ cells& stromal cells, arranged in nests, areas ofhyalinization and calcification present.So, finally she was diagnosed as a case of primaryamenorrhoea due to gonadal dysgenesis withgonadoblastoma. She was then referred to medicaloncology department of the university where shereceived 6 cycles of combination chemotherapy asBleomycin, Etioposite & Cisplatin. Simultaneouslyshe received hormone replacement therapy byconjugated equine oestrogen. Oestrogen was given inthe dose of .625mg daily for 21 days. In the last weekof the cycle, progesterone was added in the dose of5mg daily. She had withdrawal bleeding regularly &start development of breasts after 3-6 months ofhormone therapy. Her hormone therapy will becontinued for at least 1 year to 3 years.Discussion:Primary amenorrhoea is defined as non establishmentof menstruation. The case of primary amenorrhoeashould be investigated by the age of 16 in presence ofsecondary sex characteristics & by the age of 14when there is no secondary sex characteristic 5 . Forestablishment of menstruation, 5 criteria must befulfilled: i) she must be chromosomally competentfemale. ie 46XX karyotype. ii) hypothalamo pituitaryH Begumovary axis must be intact & well functioning. iii) musthave responsive endometrium. iv) must have patentoutflow tract. v) active support from thyroid &adrenal gland 13 .Menstruation is the final result of a series of eventswhich results in sexual maturity 5 . Maturation of thehypothalamo pituitary ovary through several years oflate childhood begins a cascade of events whichfinally result in establishment of normal menstrualcycle & menstruation. Amenorrhoea will result whenthere is defect or failure of function in any one of theorgans involved in this cascade 5 .Gonadoblastoma is a gonadal tumour & is composedof combination of germ cells and sex cord stromalcells. This tumour occurs in sexually abnormalindividuals, most commonly affected by gonadaldysgenesis and carrying the Y chromosome (i.e. XYgonadal dysgenesis or XO-XY mosaicism) 4,7 .Sometimes gonadoblastoma occurs in bothphenotypically & chromosomally normal females,even those with normal pregnancies 8,9 .3 cases of gonadoblastoma were reported from astudy, done in department of pathology, TehranUniversity in 1992. All were presented with primaryAmenorrhoea.24 year old patient with complete female phenotypewith 46 XY Karyotyping & small uterus & fibroticovaries (Swyer Syndrome). Bilateral gonadectomyrevealed features of gonadoblastoma.19 years old girl with female phenotype with uterineagenesis with 85% 46 XY & 15% 46 XO pattern.Bilateral small ovaries (8mm) removed and showedgonadoblastoma.19 years old girl with female phenotype with smallinfantile uterus (3cm × 2cm × 5cm), 46 XYkaryotype. Bilateral gonadectomy revealedgonadoblastoma overgrown by dysgerminoma.So all patients with gonadoblastoma showedabnormal karyotype. It is bilateral in one-third cases7 . Hence all patients with primary amenorrhoea ē46XY karyotype must be carefully counseled aboutthe malignant potential of gonads (30%).Gonadectomy must be done at a time whencounseling is completed. Patients & her guardiansmust be informed about the karyotyping & nature ofgonad 5 .98