A Case Report Of Turner Syndrome And Literature Review

Objective:Through report of a female patient with Turner syndrome treated regularly in our hospital,following-up and monitoring height,weight,brest development,spon-taneous menarche,the serum levels of thyroid hormone,sex hormne levels,IGF-1 and HGH,in order to providing evidence for the early diagnosis and treatment of Turner syndrome.Methods:History taking,physical examination,laboratory tests(the serum levels of FT4,FT3,TSH,TPOAb,TgAb,FSH,LH,E2,IGF-1,HGH,Insulin hypoglycemic test low-dose dexamethasone suppression test and chromosome analysis)and radiographic exam-inations(cardiac ultrasound,gynecological ultrasound urinary ultrasound,bone age and bone mineral density).Following-up and keeping record of height,weight,brest deve--lopment,spontaneous menarche,the serum levels of thyroid hormone,sex hormne levels,IGF-1,HGH and adjust the dosage.Results:A 16 years old woman with Turner Syndrome was refered to our hospital because of primary amenorrhea.She was the healthy product of an uncomplicated term pregnancy.As far as is known,there was no family history of anosmia and delayed sexual development.Her academic performance ranked in the middle of her class.The patient was the first child of healthy unrelated parents of normal stature,father 175.0cm and mother 163.0 cm.Her birth weight was 3000g.On physical examination,webbed neck and cubitus vaglus were detected.Breasts and external genitalia were consistent with Tanner stage II development and Tanner stage I development respectively.Endocrine studies showed an elevated follicle-stimulating hormone(FSH)level(51.39 IU/L)and low estradiol(<5pg/mL).The luteinizing hormone(LH)level was 15.35 IU/L.The insulin-like growth factor I(IGF-1)level of 346 ng/mL within the normal range and the human growth hormone(HGH)level of 0.08ng/ml was low.The thyroid fuction showed that the thyroid stimulating hormone,reeunboundthyroxine,free triiodothyronine levels were 12.150uIU/L,17.14 pmol/L,6.51pmol/L respectively.The thyroid peroxidasel antibody level was>600IU/mL and thyroglobulin antibody level was>4000IU/mL.An Insulin hypoglycemic test was performed,the peak of GH values after the test was 0.11 ng/ml.The gynecological ultrasound showed that the uterus was naive.The cardiac ultrasound and urinary ultrasound were normal.The chromosome analysis was 46,X,i(X)(q10).The bone mineral density was lower than the other peers.The diagnosis of the patient was Turner Syndrome and Hashimoto ’s thyroiditis.Treatment with left thyroid hormone sodium and tibolong was gave at first time came to our hospital.Following-up and monitoring height,weight,brest development,spontaneous menarche and the serum levels of thyroid hormone,sex hormne levels,IGF-1 and HGH.She came to our hospital for the second time in May 2016.Her height and weight were 147cm and 47kg.Breasts and external genitalia were consistent with Tanner stage II development and Tanner stage I development respectively.There was no spontaneous menarche.The thyroid fuction showed that the TSH,FT4,FT3 levels were 7.98uIU/L,16.81pmol/L,6.4pmol/L,respectively.The TPOAb was 671IU/mL and TgAb was>4000IU/mL.The elevated FSH level(66.49 IU/L)and low estradiol(7.55pg/mL).The LH level was 25.10 IU/L.The IGF-1 level of 402 ng/mL within the high range and theHGH level of 0.56ng/ml was low.when she came to our hospital for the third time in Septamber 2016,her height and weight were 149cm and 48kg,Breasts and external genitalia were consistent with Tanner stage II development and Tanner stage I development respectively.There was no spontaneous menarche.The thyroid:TSH:3.89 uIU/L,FT3:5.46pmol/L,FT4:18.74pmol/L,TPOAb:487.5IU/mL TgAb:>4000IU/mL.The sex hormone:E2<5pg/ml,FSH:62.60mUI/ml,LH:23.71mUI/ml,IGF-1 357ng/ml,HGH:0.08ng/ml.The hormone replacement with rhGH was given in the second hospitalization.After 19 mouth therapy,the patient stoped to use the rhGH without our advice and she didn’t have any disicomfort such as headache,vomiting or hyperglycemia during rhGH replacement.Conclusions:The patient with karyotype of 46,X,i(X)(q10)who has features of short stature and sexual dysgenesis and is more likely suffer from autoimmune diseases.The role of tibolone in promoting growth and sex hormone replacement is not as obvious as rhGH.RhGH replacement therapy should be used as early as possible.When the TS patient get successful FAH,we can start the therapy of sex hormone replacement.