先天性肾上腺皮质增生症致女性假两性畸形7例分析

【目的】探讨先天性肾上腺皮质增生症致女性假两性畸形患者的诊断及治疗。【方法】分析2000～2007年在中山大学附属二院治疗的7例先天性肾上腺皮质增生症致女性假两性畸形患者的临床资料。【结果】7例皆因外生殖器异常,第二性征异常或原发性闭经就诊,全部服用地塞米松治疗,5例行外生殖器整形手术,长期随访,预后良好。【结论】先天性肾上腺皮质增生症是导致女性假两性畸形的主要原因,治疗一般使之向女性发展。早诊断、早治疗,可预防过多雄激素造成的生理、心理发育异常。     

先天性肾上腺皮质增生10例临床分析

目的 总结新生儿先天性肾上腺皮质增生的临床表现、诊断及治疗.方法 对10例患先天性肾上腺皮质增生患儿的临床资料进行分析.结果 10例患儿血皮质醇低于正常,血17-羟孕酮明显增高,睾酮增高.女孩外阴呈两性畸形,阴蒂增大似阴茎,大阴唇融合;男孩全身皮肤色素黑,外生殖器及皮肤皱褶处色素沉着尤为明显.女性患者需终身糖皮质激素替代治疗;单纯男性化先天性肾上腺皮质增生症的男性患者至成人期,已达到最终身高,故可中断治疗;失盐型,无论男女均应终身治疗.结论 新生儿先天性肾上腺皮质增生容易导致性别错乱,治疗上要早期筛查发现,及时给予治疗,预后良好.     

先天性肾上腺皮质增生症之21-羟化酶缺乏症2例误诊分析

目的分析先天性肾上腺皮质增生症误诊的原因，提高诊断的准确率，以免贻误治疗时机。方法对2006年4月，2007年5月我科分别收治的先天性肾上腺皮质增生症进行回顾性分析，分析误症的原因。结果两例均为肾上腺皮质增生症之21-羟化酶缺乏症失盐型。其临床表现均有顽固性水电解质紊乱，难以纠正。结论先天性肾上腺皮质增生症之21-羟化酶缺乏症失盐型容易误诊。     

儿童17α-羟化酶缺乏症1例报告

<正>17α-羟化酶缺乏症是先天性肾上腺皮质增生症(CAH)中十分罕见的一种[1]。目前,全世界共报道大约150例[2]。本病临床常以青春期闭经和(或)高血压就诊[3],故早期就诊于儿科并确诊的病例更是极为罕见。本文就近期收治的1例儿童17α-羟化酶缺乏症病例资料进行分析。现报告如下。     

先天性肾上腺皮质增生5例

先天性肾上腺皮质增生，由缺乏对一羟化酶或11一羟化酶所致，是常染色体隐性遗传病’‘’．主要表现为女性男性比，如乳房不发育、阴蒂增大、多毛等．因先天性肾上腺皮质增生多系两个携带者婚配所生的后代，故发病率低、散发，在家系谱中看不到连续几代的遗传，但是近亲婚配其子女发病率高．1983年至1993年我院收治5例先天性肾上腺皮质增生患者，其中3例有遗传病史，因此作家系调查和系谱分析，对诊断有重要意义。2临床资料2．1单纯男性化女性外生殖器有不同程度的男性化表现，目前广泛沿用Prader分型法。我院诊治的5例中J型1例，11型2例，…     

先天性肾上腺皮质增生症用:11—β—羟化酶缺乏

先天性肾上腺皮质增生症是肾上腺皮质激素合成过程中几种酶中任一种酶缺乏所引起的一组疾病。由于某种酶的缺乏,皮质醇合成不足,从而ACTH分泌增多,使肾上腺皮质代偿性增生。按所缺乏酶的种类和临床特征,本症分5种类型,所有类型都属常染色体隐性遗传。本文报道一例先天性肾上腺皮质增生症(11—β-羟化酶缺乏)的女性患者,并对本症的临床、诊断及治疗进行了讨论。     

一例17α-羟化酶缺乏症患者的护理

先天性肾上腺皮质增生症（CAH）是一组因肾上腺皮质激素合成途径中酶缺陷引起的疾病,属常染色体隐性遗传病。其中21-羟化酶缺乏最常见,约占90%;其次是11β-羟化酶缺乏,约占5%;而17α-羟化酶缺乏症相对少见[1]。自1966年由Bigliefi等[2]报道第一例患者至今,     

先天性肾上腺皮质增生症的诊断和治疗

先天性肾上腺皮质增生症(CAH)是一组常染色体遗传病，肾上腺类固醇合成障碍导致皮质醇不足，因而导致促肾上腺皮质激素(ACTH)分泌增加。ACTH的增加又导致了肾上腺皮质的增生及其中间代谢产物和雄激素的过度产生。临床上可以出现女性男性化、男性假性性早熟或女性化、失盐或非失盐症状，或伴有高血压。     

17-羟化酶缺陷症——附一例报告

1966年,Biglieri报告了第一例17-羟化酶缺陷而致的肾上腺增生症,此病的特征为高血压、低血钾,女性性不发育,男性呈假两性畸形。本院于1978年诊断了一例,经一年多的治疗随访,效果满意,现结合本病和文献报道,对本病的病理生理,诊断,治疗进行简单复习和讨论。     

单纯男性化型21羟化酶缺乏症3例诊治分析

先天性肾上腺皮质增生症（CAH）是一组先天性常染色体隐性遗传性疾病,是由于肾上腺内皮质激素合成酶缺陷而引起,其中以21羟化酶缺乏最常见,占90%~95%。21羟化酶缺乏症据临床表现分为经典失盐型（salt wasting）、单纯男性化型（simple virizing）及非经典型（迟发型）。随着儿科内分泌研究的飞速发展,CAH患儿的诊治及随访越来越受到医学界的关注,现将2011年-2013年我院内分泌专科门诊诊治的单纯男性化型21羟化酶缺乏症3例患者的临床资料分析如下。     

11β-羟化酶缺陷症临床和基因型分析

目的 分析2例11β-羟化酶缺陷症(11β-OHD)患者的临床特点及分子遗传学诊断.方法 收集2例患者临床、基础激素测定和影像学检查资料,并采用PCR产物直接测序方法明确CYP11B1基因突变 结果 2例患者分别因“青少年高血压伴肾上腺肿瘤”和“先天性尿道下裂伴高血压17年、周期性血尿3个月”入院;激素测定示:促肾上腺皮质激素、17-羟孕酮、11-去氧皮质醇、雄烯二酮和睾酮高于正常,而血钾、醛固酮和肾素活性偏低.双侧肾上腺呈结节样增生.筛查CYP11B1基因,证实患者1为该基因8号外显子第453位和第454位氨基酸的复合杂合替代突变( R453Q/R454C);而患者2为该基因第454位氨基酸纯合替代突变(R454C).结论 11β-OHD是引起先天性肾上腺皮质增生的第二大类病因,易误诊为原发性醛固酮增多症、21-羟化酶缺陷症等在青少年起病的难治性高血压伴有双侧肾上腺皮质增生的患者中,应该注意11β-OHD的筛查.     

Congenital adrenal hyperplasia masquerading as periodic paralysis in an adolescent girl

Congenital adrenal hyperplasia is an uncommon diagnosis in routine clinical practice. 21-hydroxylase deficiency, which is its most common subtype, may be diagnosed at birth in a female infant by virilisation or by features of salt wasting in both genders. However, other uncommon subtypes of this condition such as 17-alpha-hydroxylase deficiency, 11-beta-hydroxylase deficiency may present much later in adolescence or adulthood. A high index of suspicion is necessary when evaluating children with hypertension, hypokalaemia, metabolic alkalosis or sexual infantilism.     

女性假两性畸形三例报告

报道3例女性假两性畸形患者，均为单纯男性化型，系21-羟化酶缺陷所致，先天性肾上腺皮质增生引起，并综合国内报道的49例，对该症临床表现及诊断，治疗作了讨论。     

Pharmacologic suppression of the fetal adrenal gland in utero. Attempted prevention of abnormal external genital masculinization in suspected congenital adrenal hyperplasia

21-Hydroxylase deficiency results in congenital adrenal hyperplasia and leads to masculinization of the external genitalia of affected females. This complication could be avoided if fetal adrenal gland function were suppressed. A woman with mild 21-hydroxylase deficiency whose previous female child had classic congenital adrenal hyperplasia with masculinization was given dexamethasone beginning at the tenth week of gestation. Maternal estriol and cortisol values indicated rapid and sustained fetal and maternal adrenal gland suppression. At 39 weeks' gestation, the patient was spontaneously delivered of a female neonate with normal external genitalia. Postnatal tests indicated the infant was a single heterozygote for 21-hydroxylase deficiency. This study demonstrates prolonged suppression of the fetal adrenal gland with dexamethasone and suggests it might prevent abnormal masculinization in fetuses with severe congenital adrenal hyperplasia.     

女性假两性畸形三例报告

报道3例女性假两性畸形患者,均为单纯男性化型,系21-羟化酶缺陷所致,先天性肾上腺皮质增生引起。并综合了国内报道的49例,对该症临床表现及诊断、治疗作了讨论。     

A novel missense mutation, GGC(Arg454) → TGC(Cys), of CYP11B1 gene identified in a Chinese family with steroid 11β-hydroxylase deficiency

Background Steroid 11β-hydroxylase deficiency （11β-OHD）, an autosomal recessive inherited disease, accounts for 5%-8% of congenital adrenal hyperplasia. It was scarcely reported in China. This article reports two Chinese girls with 11β-OHD. Methods The two patients were sisters and presented with hypertrichosis, skin pigmentation, laryngeal prominence and virilization of external genitalia. The patients were followed up for their clinical symptoms and signs, hormone profile, and adrenal image. The genomic deoxyribonucleic acids of the patients and their parents were isolated. 11β-hydroxylase gene （CYP11B1） was amplified by polymerase chain reaction and directly sequenced. Results Hormone tests showed that serum cortisol was in the low limit of normal range, whereas the concentrations of adrenocorticotropic hormone, testosterone and progesterone were much higher than those of normal adult females. There were obvious adrenal hyperplasia and advance of bone age. After 11 months of treatment with dexamethasone, the skin pigment became regressed; the breast, uterus and ovary gradually developed and normal menstrual cycle started while the manifestations of virilization did not change. A single point mutation of CYP11B1 （R454C, GGC → TGC） in all the members of this family was detected. The sisters were homozygous and their parents were heterozygous. Conclusions The clinical manifestation of 11β-OHD is complicated. The manifestation of virilization could not regress after treatment with dexamethasone. The novel missense mutation of CYP11B1 （R454C, GGC → TGC） is the pathogenesis of 11β-OHD at least in some Chinese patients.     

成年17α羟化酶缺陷症二例临床特征及诊疗分析

目的　分析2例成年17α羟化酶缺陷症患者的临床特征及诊疗经过,以增强临床医生对该病的认识。方法　收集西部战区总医院内分泌科分别于2013年、2019年收治的2例成年17α羟化酶缺陷症患者的临床资料,分析其临床特征及诊疗经过。结果　2例患者社会性别均为女性,年龄分别为24、31岁,成年后临床表现具有一定异质性,但均存在不同程度的低钾血症、高血压、性腺发育及性征异常、肾上腺增生;基因测序发现2例患者CYP17A1存在2处杂合突变,其中共同变异位点为CYP17A1：c.1459_c.1467delGACTCTTTC;染色体核型检测发现2例患者染色体核型分别为46XX、46XY。2例患者经糖皮质激素治疗后症状缓解。结论　17α羟化酶缺陷症发病率低,成年后临床表现具有一定异质性,早期诊断、早期治疗可改善患者成年后生活质量,临床医生应提高对该病的早期诊断、鉴别诊断水平。     

Non-identical newborn twins with congenital adrenal hyperplasia.

Two neonates, one female and one male, with congenital adrenal hyperplasia due to 21-hydroxylase deficiency are described. The inheritance of this disease is autosomal recessive. It is of interest that these two babies were non-identical twins. 21-hydroxylase deficiency is briefly discussed and some relevant aspects of the hormonal control of the development of morphological or phenotypic sex are presented. Some of the difficulties encountered following the diagnosis of this condition in Papua New Guinea are mentioned.     

单纯男性化型21-羟化酶缺乏症五例临床分析

对5例单纯男性化型21-羟化酶缺乏症女性患者的就诊过程、临床表现及实验室检查结果进行分析。5例来我院就诊时平均年龄17岁（10～26岁）;出生时均有外生殖器男性化畸形;青春期第二性征不发育,无月经来潮;终身高明显受损。染色体检查核型均为46,XX;肾上腺CT平扫示双侧。肾上腺增大;中剂量地塞米松抑制试验前、后的血睾酮水平分别为（665±334）汕g／L和（81±25）μg/L,促肾上腺皮质激素水平分别为123（范围57～563）ng／L和〈5ng/L。以上均支持21-羟化酶缺乏症的诊断。提高对本病的认识、减少误诊、力争早期诊断早期治疗尤为重要。     

Polycystic Ovaries Associated with Congenital Adrenal Hyperplasia

Polycystic ovaries were found in a 16-year-old female with congenital absence of vagina, male-like external genitalia, and congenital adrenal hyperplasia. Masculinization was sufficiently severe to cause the patient to be reared as a male. Biochemical studies of ovarian tissue revealed hyperactivity and an imbalance of enzyme systems concerned with steroid-hormone biosynthesis, which led to production of large amounts of androgens. The pathway towards estrogens was preserved but less efficient than normal. Urinary steroid metabolites before and after hysterectomy and bilateral salpingo-oophorectomy revealed an absence of Porter-Silber chromogens and tetrahydrocortisone. Excretion of aldosterone was normal and that of corticosterone slightly higher than normal. The patterns of urinary 17-ketosteroids, pregnanediol, pregnanetriol and pregnanetriolone were similar to those commonly seen in congenital adrenal hyperplasia with steroid 21-hydroxylase deficiency. Urinary estrogens after panhysterectomy were low, being in the post-menopausal range. The pathogenesis of polycystic ovaries and their possible contribution to masculinization are discussed.