A Study On Phenotypic Masculinity Of A Patient With 45,X Turner Syndrome

Objective:The purpose of this study is to investigate the diagnosis and clinical management of gonadal dysplasia complicated with disorders of sex development through the study of a case of Turner syndrome with clitoral hypertrophy and the review of relevant literature,and to emphasize the importance of multidisciplinary team of intractable case and chronic life-long treatment diseases.Method:To summarize the clinical data of an admission patient with Turner syndrome in our hospital,and to collect relevant patient dataincluding of medical history,physical examination and laboratory examination.The latter included three routine,biochemical and sex hormones,cortisol,17-hydroxyprogesterone,thyroid function and other hormone levels,.The imaging examination was composed of gynecological color Doppler ultrasound,adrenal color ultrasound,urinary color ultrasound,groin color Doppler ultrasound,brain computed tomographyand X-ray of left wrist.The data of clinical treatment and follow-up was also recorded.By summarizing the characteristics of the case,grasping the keywords,and consulting the relevant literature,the cause of the phenotypic abnormality were speculated.Adhering to informed consent,with the consent of the hospital medical ethics committee and the parents of the children,we chose appropriate and sensitive cytogenetic and molecular genetic testing techniques which including karyotype analysis,chromosome microarray analysis and SRY gene detection.Results:Case characteristics: 1.Female gender with phenotypic masculinity: 4 years old,clitoris hypertrophy was found when have right inguinal hernia,but not attached,increased slowly,12 years old clitorisplasty,and the clitoris gradually increased after surgery 2.Congenital multiple organ dysplasia: including cardiac ventricular septal defect,right inguinal hernia and uterine ovarian dysplasia;3.karyotype analysis is "45,X",but had no typical physical characteristics of turner syndrome;4.Estrogen replacement therapy was performed after clitorisplasty at 12-year-old,secondary sexual development was not good;5.16 years old,when the patient saw the doctor the clitoris was found increased again,and testosterone was found increased significantly at the same time.Clinical examination excluded congenital adrenal hyperplasia,adrenal tumors and other diseases,peripheral blood SRY gene test results were positive,bilateral gonadectomy was taken,intraoperative and pathological findings: dysplastic ovary on the left,dysplasia testis on the right;gonad SRY gene test:negtive on the left,positive on the right;serum testosterone decreased to normal on the third day after surgery.We diagnosed finally: 45,X DSD.After the operation continued estrogen+ estrogen and progesterone replacement therapy was performed,the second sexual characteristics developed well,menstrual regularity for more than 1 year.Conclusion:1.After multidisciplinary unity,the final diagnosis is 45,X DSD.It enriches the understanding of Turner syndrome and disorders of sex development.2.The expression of SRY gene in one gonad to develop into a functional testis,which secrets androgen and leads to clitoral hypertrophy.3.Female patients with inguinal hernia must be highly alert to disorders of sex development.4.Turner syndrome patients need lifelong multidisciplinary management.