發(fā)布時(shí)間：2018-06-05 08:15

  本文選題：激素不敏感綜合征 + 甲狀旁腺激素不敏感綜合征　； 參考：《中國人民解放軍醫(yī)學(xué)院》2017年碩士論文

【摘要】：目的總結(jié)近20年在解放軍總醫(yī)院診治的激素不敏感綜合征(Hormone Insensitivity Syndrome,HIS)患者的臨床特點(diǎn),以提高臨床醫(yī)師對HIS的認(rèn)識,減少漏診率和誤診率。方法回顧性分析近20年在解放軍總醫(yī)院診治的HIS患者61例,分析HIS的臨床及實(shí)驗(yàn)室指標(biāo),系統(tǒng)總結(jié)激素不敏感綜合征的臨床特點(diǎn)。結(jié)果1、 (1)近20年,我院診治的HIS共61例,其中甲狀旁腺激素不敏感綜合征(PHP) 36例(59%)、雄激素不敏感綜合征(AIS) 13例(21.3%)、重度胰島素不敏感綜合征(IRS) 7例(11.5%)、甲狀腺激素不敏感綜合征(THIS) 5例(8.2%)。除外AIS,其余的HIS中男性共24例(50%),女性共24例(50%),性別比例無明顯差異,平均就診年齡為24.1±16.7歲。(2) HIS在不同時(shí)間段病因構(gòu)成不同,均以PHP所占比例最高(63.6%、76.9%、51.4%)。2、(1) PHP組的平均就診年齡(18.4±8.5)歲、平均身高(152.2±14.3) cm,平均病程為54個(gè)月,其中3例有可疑家族史(有“O”型腿、癲癇、強(qiáng)直性脊柱炎家族史)。首診癥狀多為肢體感覺異常(麻木、無力)、搐搦,其中3例以生長發(fā)育遲緩就診,其常見表現(xiàn)為手足搐搦(80.6%),感覺異常(58.3%),骨骼異常(55.6%),同時(shí)出現(xiàn)了精神問題、眼部異常、異位鈣化、感染、癲癇等并發(fā)癥。其主要治療是應(yīng)用碳酸鈣D3 600mg l-2/d、骨化三醇0.25μg 1-2/d治療。(2) PHP組就診年齡、身高以及甲狀腺素(TT4)、游離甲狀腺素(FT4)和尿鈣均低于原發(fā)性甲狀旁腺功能減退癥(HPP)組(P0.05) ; PHP組的堿性磷酸酶(160.8U/Lvs.62.4 U/L)、總1型膠原氨酸端延長肽(261.2 μg/Lvs. 34 μg/L)、β-膠原降解產(chǎn)物(1.9 ng/ml vs. 0.3 ng/ml)和骨鈣素(50.2 ng/ml vs. 9.1 ng/ml)均高于 HPP 組(P0.05)。PHP組異位鈣化的發(fā)生率(69.4%vs. 30.6%)高于HPP組(P0.05)。 (3)血鈣、血磷及病程是甲狀旁腺功能減退癥發(fā)生癲癇的危險(xiǎn)因素。3、(1) AIS平均就診年齡(20.2±6.6)歲、性腺切除的平均年齡(20.1±3.9)歲,平均身高(162.2±12.0) cm。其中3例有可疑的家族史。(2)首診癥狀多為第二性征異常,常見表現(xiàn)為乳房發(fā)育(92.3%)、隱睪(53.8%)、胡須、腋毛、陰毛稀疏(42.2%);完全型雄激素不敏感外生殖器多表現(xiàn)為女性,伴陰腋毛稀疏、小陰唇發(fā)育差等;部分型雄激素不敏感綜合征外生殖器可從女性表現(xiàn)到男性表現(xiàn)。(3)睪酮(T)平均水平為(33.8±18.6) nmol/L、促黃體生成素(LH)平均水平為(32.2±19.7)mIU/ml、卵泡刺激素平均水平為(FSH) 11 (3,61.8)IU/L。(4)治療方面,8例患者行性腺切除術(shù),4例術(shù)后行雌激素替代治療,其余患者行外生殖器、乳房整形術(shù)及定期隨訪。(5)性腺病理結(jié)果均表現(xiàn)為發(fā)育不良的曲細(xì)精管,精管內(nèi)生精細(xì)胞、支持細(xì)胞少且未見各級精母細(xì)胞及成熟精子,伴不同程度的間質(zhì)細(xì)胞增生。結(jié)論1、近20年,我院就診的HIS呈逐年上升趨勢,以PHP所占的比例最高。目前,臨床醫(yī)師對HIS認(rèn)識尚存在不足。2、PHP的并發(fā)癥發(fā)生率較HPP高,因此早期診斷可改善患者預(yù)后,對于發(fā)病年輕、有骨骼體態(tài)異常及家族史者,應(yīng)注意甲狀腺功能、骨代謝生化標(biāo)記物等檢查,以提高PHP的早期診斷率;在面對以癲癇為首發(fā)癥狀時(shí)應(yīng)加強(qiáng)血鈣、血磷及顱腦CT的檢查,與PHP相鑒別,避免誤診為癲癇。3、AIS是復(fù)雜的罕見疾病,臨床上極易延誤診治和治療,且目前對AIS的治療是片面的。AIS的治療關(guān)鍵是性別選擇,根據(jù)內(nèi)外生殖器、心理性別等因素慎重決定性別。在治療上,AIS應(yīng)采取多學(xué)科聯(lián)合治療,例如兒科、婦產(chǎn)科、心理科、整形外科等,特別應(yīng)注重心理治療的重要性。
[Abstract]:Objective to summarize the clinical characteristics of Hormone Insensitivity Syndrome (HIS) patients in the General Hospital of PLA for the last 20 years in order to improve the knowledge of HIS, reduce the rate of missed diagnosis and the rate of misdiagnosis. Methods a retrospective analysis of 61 cases of HIS patients in the general medical hospital of PLA in the last 20 years was analyzed, and the clinical and experimental analysis of HIS was analyzed. The clinical characteristics of steroid insensitive syndrome were systematically summarized. Results 1, (1) in recent 20 years, 61 cases of HIS were treated in our hospital, including 36 cases (59%) of parathyroid hormone insensitive syndrome (PHP), 13 cases (21.3%) of androgen insensitive syndrome (AIS), 7 cases of severe insulin insensitivity syndrome (11.5%), and thyroid hormone insensitivity syndrome. (THIS) 5 cases (8.2%), except AIS, the rest of the male 24 cases (50%), female 24 cases (50%), the sex ratio was not significantly different, the average age was 24.1 + 16.7 years. (2) HIS in different time periods of the cause of the difference, the highest proportion of PHP (63.6%, 76.9%, 51.4%).2, (1) the average age of PHP group (1) the average age (18.4 + +) age (1) PHP group, average height (1) 52.2 + 14.3) cm, the average course of disease was 54 months, of which 3 had suspected family history (with "O" type legs, epilepsy, and ankylosing spondylitis family history). The first symptoms were most of the extremities (numbness, weakness), tetany, of which 3 cases were treated with growth retardation (80.6%), abnormal sensation (58.3%), and skeletal abnormalities (55.6%). Mental problems, abnormal eye, ectopic calcification, infection, epilepsy and other complications occurred. The main treatment was the use of calcium carbonate D3 600mg l-2/d, ossification three alcohol 0.25 g 1-2/d. (2) the age of the PHP group, height and thyroid hormone (TT4), free thyroxine (FT4) and urinary calcium were lower than the primary parathyroid hypogonadism (HPP) group (P0.) 05): the alkaline phosphatase (160.8U/Lvs.62.4 U/L) of group PHP, total type 1 collagen ammonia acid end lengthening peptide (261.2 mu g/Lvs. 34 mu g/L), beta collagen degradation product (1.9 ng/ml vs. 0.3 ng/ml) and Osteocalcin (50.2 ng/ml vs. 9.1 ng/ml) were higher than those of the HPP group (3). (3) blood calcium, blood Phosphorus and course were the risk factors of parathyroid hypogonadism.3, (1) the average age of AIS was (20.2 + 6.6) years, the average age of the gonadectomy (20.1 + 3.9) years, the average height (162.2 + 12) cm., among which 3 had a suspected family history. (2) the first symptoms were the secondary sex syndrome, and the common manifestations were breast development (92.3%) and cryptorchidism (53.) .8%), beard, axillary hair, and pubic hair sparsely (42.2%); complete androgen insensitive exo genitals were mostly female, with sparse axillary hair and poor labia development; partial androgen insensitive genitals could be displayed from women to male performance. (3) the average level of testosterone (T) was (33.8 + 18.6) nmol/L, and luteinizing hormone (LH) Ping Junshui The average level of (32.2 + 19.7) mIU/ml, the average level of follicle stimulating hormone (FSH) 11 (3,61.8) IU/L. (4), 8 patients underwent gonadectomy, 4 cases of estrogen replacement therapy, the rest of the patients underwent external genitals, breast plastic surgery and regular follow-up. (5) the pathological results of the gonadal gland were characterized by hypoplastic seminiferous tubules and spermatogenic cells in the seminiferous tubules. Conclusion 1, in the last 20 years, the HIS in our hospital has been increasing year by year, and the proportion of PHP is the highest. At present, the clinicians are still less than.2 in the understanding of HIS, and the incidence of PHP is higher than that of HPP, so the early diagnosis can improve the patient's precondition. Later, for the young, with abnormal skeletal posture and family history, we should pay attention to the examination of thyroid function and biochemical markers of bone metabolism so as to improve the early diagnosis rate of PHP. In the face of epilepsy as the first symptom, we should strengthen the examination of blood calcium, blood phosphorus and brain CT, identify with PHP, avoid misdiagnosis as epilepsy.3, AIS is a complex rare disease, The clinical treatment and treatment are very easy to delay, and the treatment of AIS is the key to the treatment of one-sided.AIS. The sex selection is the key to determine sex according to the internal and external genitals, psychological sex and so on. In the treatment, AIS should take multidisciplinary combined treatment, such as pediatrics, Obstetrics and Gynecology, psychology, plastic surgery and so on, and should pay special attention to the weight of psychotherapy. It's sex.
【學(xué)位授予單位】：中國人民解放軍醫(yī)學(xué)院
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2017
【分類號】：R58

【參考文獻(xiàn)】

相關(guān)期刊論文 前10條

1 張梅瑩;狄文;;雄激素不敏感綜合征的診療進(jìn)展[J];上海交通大學(xué)學(xué)報(bào)(醫(yī)學(xué)版);2015年12期

2 哈斯;郭玲玲;谷偉軍;竇京濤;楊國慶;金楠;陳康;杜錦;臧麗;楊麗娟;郭清華;巴建明;呂朝暉;母義明;;273例肌酸激酶增高的內(nèi)分泌疾病病因構(gòu)成分析[J];解放軍醫(yī)學(xué)院學(xué)報(bào);2015年12期

3 王曉峰;朱穎軍;;完全型雄激素不敏感綜合征4例診治分析[J];國際婦產(chǎn)科學(xué)雜志;2015年05期

4 鞏純秀;王稀歐;;雄激素不敏感綜合征的診斷現(xiàn)狀和治療[J];中國循證兒科雜志;2015年05期

5 伍寧玲;呂朝暉;;甲狀腺激素不敏感綜合征診療綜述[J];藥品評價(jià);2014年23期

6 彭U，

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