XY Chromosome in a Female With Secondary Amenorrhea

XY Chromosome in a Female With Secondary AmenorrheaDania Al-Jaroudi, M.DCapsuleA 17-year-old missy presented to our gynaecology clinic with secondary amenorrhea. She had been diagnosed with wholly at the suppurate of 5 historic period, she received chemotherapy and shaft of light over the following years. Her chromosomal analysis showed a karyotype of 46, XY.Introduction direct ovarian insufficiency is a disorder that is deliriously traumatic and bears lifelong consequences on fertility, bone and cardiovascular health (1,2), making it more contend is its occurrence in adolescents. Previously the term premature menopause had been utilise and found to be incorrect as ab start 50 % of women incur intermittent ovarian function and may ovulate and conceive by and by this diagnosis (1,2,3). The diagnosis is made when women younger than 40 years, have quartet or more months of amenorrhea and two serum FSH levels taken one month apart in the menopausal range (2).Causes of unc reated ovarian insufficiency in adolescents include chromosomal ab everydayities, premutation in the FMR1 constituent for fragile X, or iatrogenic from chemotherapy or radiation therapy (1). Infiltrative, infectious processes and pelvic surgery are less common causes (1). Autoimmune disease is other cause, as around 4% of women will have adrenal or ovarian antibodies. Still the etiology remains unknown in legion(predicate) efforts (3).Although advances in oncology give-and-takes have improved survival of childhood cancer, this came at the put down of ovarian function, increasing the risk of ovarian insufficiency and infertility (4). international Morse code et. al showed in a prospective observational study of ovarian function during cancer treatment of females aged 0 to 18 years that ovarian insufficiency occurred in chemotherapy treated prepubertal and pubertal perseverings no matter of menarche, age, diagnosis or chemotherapy given (5). Furthermore, females receiving ray of light below the diaphragm and/or understructure mobile phone grafting (SCT) had no recovery in their ovarian function followed for one and a half years from the end of their treatment (5).Clinicians need to be sensitive in delivering the diagnosis of autochthonic ovarian insufficiency to their diligents (6). This diagnosis can be emotionally traumatic and emotional needs of the persevering need to be addressed as should still support be available (6). Adequate information regarding the diagnosis should be given as according to Groff AA et al (6) most diligents feel that undermanned information decreased their sense of control (6).Case ReportOur patient is a17-year old single girl who presented to our clinic with secondary amenorrhea. She had been diagnosed with acute lymphocytic leukemia (ALL) in 2002 at 5 years of age. Therapy began with hyperfractionated chemotherapy with two courses course A cyclophosphamide, vincristine, doxorubicin, and dexamethasone and furrow B m ethotrexate and cytarabine (HCVAD). She relapsed in 2007 and 2012 and was treated with methotrexate (MTX), dexamethasone (DEXA), vincristine, and L-asparagine. She then had total ashes radiation in 2012.In July 2012, patient was referred to King AbdulAziz medical city at 15 years of age with pancytopenia, she was again given hyperfractionated chemotherapy with two courses course A cyclophosphamide, vincristine, doxorubicin, and dexamethasone and Course B methotrexate and cytarabine (HCVAD).After remission she was given busulfan/cyclophosphamide then she had stem carrellular phone transplant (SCT) from her full HLA matched blood relative.Patient had menarche at 11 years, by and by which she had regular menstruations for 4 years before she developed secondary amenorrhea. progesterone challenge test was done with no response. Hormonal profile showed hypergonadotropic hypogonadism, normal thyroid function test and prolactin levels. Pelvic ultrasound showed normal, solely small size d uterus and ovaries. Chromosomal analysis showed 46, XY, this confused her primary quill physician was unsure active the best plan of management. On gain review of her previous investigations, her chromosomal analysis one-year back had been a normal female genotype. So with the stem cell transplant (SCT) from her HLA matched sibling her genotype and her whole cell line had changed. With the impression of premature ovarian insufficiency as her primary diagnosis, patient was started on cyclical hormonal therapy estradiol valerate 2 mg, norgestrel 500 mcg (progyluton, Bayer Health, Germany) for 6 months. On follow up after 2 months, she didnt start progyluton because she horizon she needs to start 5th day of cycle proper discuss was done and patient was seen 2 months afterwards on hormonal therapy, calcium and vitamin D with withdrawal bleeds.Objective To report a case of primary ovarian insufficiency in 17 year old, single girl, who had ALL and was treated with chemo and radioth erapy, followed by bone marrow transplant.Design Case report. pose King Abdulaziz Medical CityPatient(s) A patient diagnosed with primary ovarian insufficiency, after receiving chemo and radiotherapy for ALL. She later received bone marrow transplant from her HLA matched brother.Intervention(s) Hormone replacement therapy.Main Outcome Measure(s) After ruling out other causes, counseling and emotional support where given to the patient. She was then started on hormonal replacement therapy, calcium and vitamin D.Result(s) Patient started hormonal therapy and was followed in the clinic.Conclusion(s) This case describes a primary ovarian insufficiency in a girl post chemo and radiotherapy it also describes a change in cell line following bone marrow transplant from her HLA matched brother.Key voice communication Secondary amenorrhea, primary ovarian insufficiency, Hormonal replacement therapy, stem cell transplant.Acknowledgments We would like to express our thanks to Dr. Hanan Dahlawi for providing care to the patient.DiscussionConditioning with chemotherapy and radiotherapy prior to stem cell transplant (SCT) particularly with cyclophosphamide and total body irradiation will inevitably lead to primary ovarian insufficiency and infertility (7). The risk of primary ovarian insufficiency when patients receive busulfan and cyclophosphamide is about 100%, similar to what our patient has received (7).We report this case as this patients karyotype changed to a male karyotype following stem cell transplant (SCT) from her full HLA matched sibling. This led to a diagnostic confusion at first, and was later understood after her karyotype one year earlier was reviewed and genetist was consulted.thither was no similar cases reported in the literature, although numerous cases where reported on primary ovarian insufficiency in adolescents, and successful pregnancy thereafter. Therefore, we cheer to educate physician on changes occurring after stem cell transplant. Unfortunat ely, this patient was not offered fertility preservation options prior to her treatment this again is some other area of awareness that needs to be raised in physicians.Nonetheless, this patient was offered counseling and hormonal therapy after she was referred to our out patient clinics. The aim of hormonal therapy in adolescents with primary ovarian insufficiency includes the relief of hypooestrogenic symptoms in amplification to bone support, cardiovascular, and sexual health (8). Adolescents may need higher doses of estrogen than menopausal women to ensure adequate replacement and optimal bone health (8).