She had normal female genitalia with visible vaginal orifice, urethral orifice, and a normal size clitoris, but scanty pubic and axillary hairs (Tanner stage II). The patient presented 172 cm height, 62 kg weight, and female appearance. 2 Case reportĪn 18-year-old girl suspected DSD was transferred to our hospital for primary amenorrhea and 46 XY chromosome karyotype. We here report a case of an 18-year-old girl with primary amenorrhea and 46 XY karyotype after bone marrow transplantation (BMT) and adjuvant chemotherapy misdiagnosed as DSD. However, it is not necessarily the right diagnosis. A female patient complaining primary amenorrhea and 46 XY karyotype can be easily diagnosed as Y chromosome-related DSD by clinical physicians. Some of them have unique appearance and abnormal height. Majority of patients present clinical characteristics of primary amenorrhea, absent secondary sex characters, and abnormal hormone level. In addition, ovarian function protection should be considered for young girls having chemotherapy.ĭisorders of sex development (DSD), defined as a congenital condition in which the development of chromosomal, gonadal or genital sex is atypical, includes a wide spectrum of phenotypes. Do not presumptively judge a test and mislead reasoning. The present case serves as a reminder that a correct diagnosis depends on the comprehensive collection of present and past medical history, complete physical examination, and careful evaluation of related adjuvant tests. Interventions:ĭuring the second visit, the patient had her menarche lasting 4 days without any medication. Her karyotype changed from normal female to a karyotype of donor (her brother) origin after BMT.Īdjuvant chemotherapy for AML may impair her ovarian function and finally bring about disrupted puberty or primary ovarian insufficiency (POI). With doubts, we found that she received bone marrow transplantation (BMT) from her brother and adjuvant chemotherapy 6 years ago. The clinical manifestations were not consistent with DSD. We consider that her gonads were probably functional and later impaired after AML. The patient has normal female reproductive organs and a disrupted pubertal development after the treatment for acute myeloid leukemia (AML). We report the case of an 18-year-old girl with primary amenorrhea and 46 XY karyotype misdiagnosed as Y-chromosome-related DSD. A female appearance patient with primary amenorrhea and 46 XY karyotype seems to be solid evidences to diagnose Y-chromosome-related DSD diseases, while it is not necessarily the accurate diagnosis. ĭisorders of sex development (DSD) is a congenital condition in which the development of chromosomal, gonadal or genital sex is atypical.
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This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The authors have no funding and conflicts of interest to disclose. ACTH = adrenocorticotrophic hormone, AIS = androgen insensitivity syndrome, ALD = aldosterone, AMH = anti-Müllerian hormone, AML = acute myeloid leukemia, BMA = bone marrow aspiration, BMT = bone marrow transplantation, CTX = cyclophosphamide, DHEA-S = dehydroepiandrosterone, DSD = disorders of sex development, E 2 = estrogen, FSH = follicle stimulating hormone, GnRH = gonadotropin-releasing hormone, HRT = hormone replacement therapy, LH = luteinizing hormone, MIS = Müllerian-inhibiting substance, P = progesterone, POI = primary ovarian insufficiency, PRA = renin activity, PRL = prolactin, T = testosterone. Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.Ĭorrespondence: Qinjie Tian, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan, Wangfujing Street, Dongcheng District, Beijing, China (e-mail: ).Ībbreviations: 17-α-OHP = 17-alpha-hydroxyprogesterone, 17OHD = 17 alpha-hydroxylase/17, 20-lyase deficiency, 46XY PGD = 46XY pure gonadal dysgenesis.