| ObjectiveTo summarize the characteristics of the disease distribution in hospitalized patients with hormone insensitivity synfrome during the past 20 years.Methods61 cases with hormone insensitivity syndrome hospitalized in Chinese PLA general hospital in recent 20 years old were retrospectively analysized.All the clinical and liboratory data were summarized,to summarize the characteristics of the disease.Results1.(1)In recent 20 years,61 patients with HIS were admitted to the Chinese PLA General Hospital,including 36 cases of parathyroid hormone insensitivity syndrome(PHP) (59%),13 cases of androgen insensitivity syndrome (AIS)(21.3%), 6 patients with insulin insensitivity syndrome (11.5%), 5 cases with thyroid hormone insensitivity syndrome (THIS) (8.2%).With the exception of AIS, 24 patients were asked males (50%), and the other 24 patients were raised as females (50%).The overall average age was 24.1 ± 16.7 years old.(2)The cause of the disease is complex.PHP was the common disease (63.6%?76.9%?51.4%).2.(1)The average age of patients with PHP was 18.4 ± 8.5 years old, the average height was 152.2 ± 14.3cm, the average duration was 54 months.There were 3 cases that had family history.Body paraesthesia and tetany were the first clinical presentation leading to discovery of PHP,Of which,3 cases with growth retardation were admitted.The most clinical presentation were tetany (80.6%), abnormal sensation (58.3%), abnormal bone (55.6%) .The complication included Mental problems, abnormal eye, ectopic calcification, infection, epilepsy.The main treatment was the application of calcium carbonate D3 600mg 1 to 2/d,calcitriol 0.25 ug 1 to 2/d.(2)The vitamin D3,thyroxine, free thyroxine and urinary calcium in PHP group were lower than those in HPP group (P<0.05);Alkaline phosphates (160.8 U/L vs.62.4 U/L)and total type 1 collagen amino acid side extension of the peptide(261.2 ?g/L vs.34 ?g/L),beta collagen degradation products (1.9 ng/ml vs. 0.3 ng/ml) and osteocalcin(50.2 ng/ml vs. 9.1 ng/ml) in PHP group were much higher than those in HPP group(P < 0.05).The incidence of ectopic calcification (69.4% vs. 30.6%) in PHP group were higher than those in HPP group .(3)Blood calcium, phosphorus and course of the disease are the risk factor of seizure.3.(1)The average age of patients with AIS was 20.2 ±6.6 years old, the average age of gonadectomy was 20.1 ±3.9 years old,the average height was 162.2± 12.0 cm; There were 3 cases that had family history.(2)The anomalies of secondary sex characteristic was the first clinical presentation.The most clinical presentation were breast development (92.3%), cryptorchidism (53.8%), sparse beard, armpit hair, pubic hair(42.2%).(3)T (33.8 ± 18.6) nmol/L, luteinizing hormone (LH) (32.2 ± 19.7)mIU/ml,follicle-stimulating hormone (FSH) 11(3,61.8) IU/L.(4)In the treatment, 8 patients had the gonadectomy.After the gonadectomy,4 patients recepted estrogen replacement therapy. The rest of the patients had do the genital and breast anaplasty, or regular follow-up.(5)Gonad pathologic results in 4 patients were characterized by dysplasia of seminiferous tubule.In the seminiferous tubule, there had less sperm cells and supporting cells and did not see spermatocyte and mature sperm.There had different levels of interstitial cell hyperplasia.Conclusion1.In recent 20 years,there was a upward trend of HIS,PHP was common disease in HIS.Recently,clinical physicians had insufficient understanding about HIS.2.The incidence of complication in PHP were higher than those in HPP, early diagnosis can improve prognosis.The diagnosis of PHP should be firstly considered in young patients with family history and with obvious abnormal stature, thyroid function, abnormal bone biochemical markers.Epilepsy as starting syndrome should strengthen blood calcium,phosphorus,CT scan,avoiding excessive medical care.3.AIS is a rare and complex disease, it is easy to delay the diagnosis and treatment,and the treatment is one-side.On treatment,the appropriate choice of gender is the most important tissue,this should be made according to the characteristics of external genitals and the prominent gonads.AIS should adopt a multidisciplinary combination therapy, such as pediatrics, obstetrics and gynecology, psychological,plastic surgery, especially should pay attention to the psychological treatment. |
PDF Full Text Request