One Case Report Of 46,XY Pure Gonadal Dysgenesis And Literature Review

Objective We summarize the clinical characteristics,diagnosis and differential diagnosis,pathogenesis and treatments of one patient with 46,XY pure gonadal dysgenesis.To improve the clinician’s understanding of the disease,to diagnose and treat early.Methods We retrospectively analyzed the clinical data,including symptoms,signs,the laborotory testings,the radiology results,the diagnosis,the differential diagnosis,and treatments of the patient with 46,XY pure gonadal dysgenesis,and reviewed the related literatures.Results Gao was phenotypic female and 45 years old.She was admitted to hospital with primary amenorrhea and dizziness for seven years.Seven years ago,Gao felt dizziness,palpitation,flushing,sweating,nausea and vomiting without any obvious reasons.Four years ago,Gao’s blood pressures were 130-140/90-100 mmHg,and was diagnosed with hypertension.Levamlodipine maleate with the dose of 2.5mg/d was administered to control blood pressure.The above symptoms were not present.She felt discomfortable one week ago.Gao,as a wife,married with husband.They had normal sexual life,but Gao was unfertile.Gao’s mother has hypertension,with blood pressure reached 160/100 mmHg.Gao’s Aunt also presented with primary amenorrhea,normal sexual life,and unfertile.Physical examinations were140-144/90-100 mmHg of the resting blood pressure,173 cm in ehight,85 Kg in weight.97 cm in abdominal circumference,and Body Mass Index（BMI）28.4 kg/m²indicating abdominal obesity.The intelligence was normal.The distance between the fingers was greater than the height.The degree of breast development was Tanner B4,and the degree of pubic hair development was Tanner PH3.Laboratory tests showed Total Cholesterol（TC）5.79 mmol/L,Low Density Lipoprotein Cholesterol（LDL-C）3.29 mmol/L,and Vanillyl Mandelic Acid（VMA）2.37 mg/24h,Direct Renin Concentration（DRC）59.33?IU/ml,Plasma Renin Activity（PRA）6.37 ng/ml/h,Angiotensin II（AII）94.64 pg/ml,aldosterone（Ald）140.27 pg/ml,blood cortisol（Cor）8 points 387.23 nmol/L,16 points 135.62 nmol/L,24 points 8.27 nmol/L,promote Adreno Cortico Tropic Hormone（ACTH）8 points 21.75 pg/ml,16 points 14.47 pg/ml,24 points 9.22 pg/ml,low-dose dexamethasone test blood Cor inhibition rate 92.6%.Renal artery color Doppler ultrasound and adrenal CT were normal.Abdominal color Doppler showed fatty liver.Pituitary MRI showed a small nodular enhancement shadow on the lower edge of the pituitary,about 0.5 cm in diameter,indicating pituitary microadenoma.Sexual hormones were Luteinizing Hormone（LH）9.33mIU/ml,Follicle-Stimulating Hormone（FSH）31.19 mIU/ml,Estradiol（E₂）24.00pg/ml,Progesterone（P）0.96 ng/ml,testosterone（T）0.470 ng/ml,Dehydroepiandrosterone Sulfate（DHEA-S）89.20?g/dl,and androstenedione（AND）2.34 ng/Ml.The ultrasound showed bilateral breast hyperplasia,vaginal,no ovaries.CT scans showed mild inguinal hernia on the left side and uterine dysplasia.X-rays of both hands showed signs of hyperosteogeny and osteoporosis in both hands.Dual X ray of bone density examination results showed lumbar spine Z-score-4.4,and femur Z-score-2.2,suggesting osteoporosis.The karyotype of chorosome was 46,XY.The diagnosis was 46,XY pure gonadal dysgenesis,hypertension grade 2,intermediate risk,dyslipidemia,fatty liver,secondary osteoporosis,pituitary microadenomas（non-functional tumor）,and breast hyperplasia.Candesartan with dosage of 4 mg/d combined with levamlodipine maleate with dosage of 2.5 mg/d were given to control blood pressure.Calcitriol dosed 0.25?g daily and calcium carbonate D3 tablet dosed600mg daily were taken orally to improve osteoporosis.Consulted with the patient by endocrinologist,radiologist,and gynaecologist,Gro and her family members decided to maintain female gender.Gao was advised to to perform gonadal tissue exploration and biopsy,and to remove dysplastic gonadal tissue,but Gao did not recieve this exame and treatment.After one year follow-up,Gao was treated with 2 mg/d of levamlodipine maleate alone,and the blood pressures were controled.Conclusions:1.This patient presented with primary amenorrhea,phenotypic females,tall,secondary sexual dysplasia,vaginal,naive uterus,cord-like gonads,and osteoporosis.The external genitalia are naive,and without the signs of Turner syndrome.The results,high leve of FSH and LH,low level of E₂ and P,and chromosome karyotype 46,XY,indicated 46,XY pure gonadal dysgenesis.2.Treatment included gender selection,removal of hypoplastic gonad tissue,sex hormone replacement therapy,and following up through the multidisciplinary team.Gonad exploration,biopsy and resection,and sex hormone replacement therapy inducing adolescent sexual development are particularly important to improve the prognosis of patients.3.Improving the understanding of 46,XY pure gonadal dysgenesis,is to reduce misdiagnosis and missed diagnosis,to diagnose and treat early,to improve prognosis and avoid gonadal tumors.