激素不敏感综合征的临床分析

发布时间：2018-06-05 08:15

本文选题：激素不敏感综合征 + 甲状旁腺激素不敏感综合征　；参考：《中国人民解放军医学院》2017年硕士论文

【摘要】：目的总结近20年在解放军总医院诊治的激素不敏感综合征(Hormone Insensitivity Syndrome,HIS)患者的临床特点,以提高临床医师对HIS的认识,减少漏诊率和误诊率。方法回顾性分析近20年在解放军总医院诊治的HIS患者61例,分析HIS的临床及实验室指标,系统总结激素不敏感综合征的临床特点。结果1、 (1)近20年,我院诊治的HIS共61例,其中甲状旁腺激素不敏感综合征(PHP) 36例(59%)、雄激素不敏感综合征(AIS) 13例(21.3%)、重度胰岛素不敏感综合征(IRS) 7例(11.5%)、甲状腺激素不敏感综合征(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%),性别比例无明显差异,平均就诊年龄为24.1±16.7岁。(2) HIS在不同时间段病因构成不同,均以PHP所占比例最高(63.6%、76.9%、51.4%)。2、(1) PHP组的平均就诊年龄(18.4±8.5)岁、平均身高(152.2±14.3) cm,平均病程为54个月,其中3例有可疑家族史(有“O”型腿、癫痫、强直性脊柱炎家族史)。首诊症状多为肢体感觉异常(麻木、无力)、搐搦,其中3例以生长发育迟缓就诊,其常见表现为手足搐搦(80.6%),感觉异常(58.3%),骨骼异常(55.6%),同时出现了精神问题、眼部异常、异位钙化、感染、癫痫等并发症。其主要治疗是应用碳酸钙D3 600mg l-2/d、骨化三醇0.25μg 1-2/d治疗。(2) PHP组就诊年龄、身高以及甲状腺素(TT4)、游离甲状腺素(FT4)和尿钙均低于原发性甲状旁腺功能减退症(HPP)组(P0.05) ; PHP组的碱性磷酸酶(160.8U/Lvs.62.4 U/L)、总1型胶原氨酸端延长肽(261.2 μg/Lvs. 34 μg/L)、β-胶原降解产物(1.9 ng/ml vs. 0.3 ng/ml)和骨钙素(50.2 ng/ml vs. 9.1 ng/ml)均高于 HPP 组(P0.05)。PHP组异位钙化的发生率(69.4%vs. 30.6%)高于HPP组(P0.05)。 (3)血钙、血磷及病程是甲状旁腺功能减退症发生癫痫的危险因素。3、(1) AIS平均就诊年龄(20.2±6.6)岁、性腺切除的平均年龄(20.1±3.9)岁,平均身高(162.2±12.0) cm。其中3例有可疑的家族史。(2)首诊症状多为第二性征异常,常见表现为乳房发育(92.3%)、隐睾(53.8%)、胡须、腋毛、阴毛稀疏(42.2%);完全型雄激素不敏感外生殖器多表现为女性,伴阴腋毛稀疏、小阴唇发育差等;部分型雄激素不敏感综合征外生殖器可从女性表现到男性表现。(3)睾酮(T)平均水平为(33.8±18.6) nmol/L、促黄体生成素(LH)平均水平为(32.2±19.7)mIU/ml、卵泡刺激素平均水平为(FSH) 11 (3,61.8)IU/L。(4)治疗方面,8例患者行性腺切除术,4例术后行雌激素替代治疗,其余患者行外生殖器、乳房整形术及定期随访。(5)性腺病理结果均表现为发育不良的曲细精管,精管内生精细胞、支持细胞少且未见各级精母细胞及成熟精子,伴不同程度的间质细胞增生。结论1、近20年,我院就诊的HIS呈逐年上升趋势,以PHP所占的比例最高。目前,临床医师对HIS认识尚存在不足。2、PHP的并发症发生率较HPP高,因此早期诊断可改善患者预后,对于发病年轻、有骨骼体态异常及家族史者,应注意甲状腺功能、骨代谢生化标记物等检查,以提高PHP的早期诊断率;在面对以癫痫为首发症状时应加强血钙、血磷及颅脑CT的检查,与PHP相鉴别,避免误诊为癫痫。3、AIS是复杂的罕见疾病,临床上极易延误诊治和治疗,且目前对AIS的治疗是片面的。AIS的治疗关键是性别选择,根据内外生殖器、心理性别等因素慎重决定性别。在治疗上,AIS应采取多学科联合治疗,例如儿科、妇产科、心理科、整形外科等,特别应注重心理治疗的重要性。
[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.
【学位授予单位】：中国人民解放军医学院
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R58

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