易被误诊为睾丸肿瘤的肾上腺残余瘤

睾丸肾上腺残余瘤(TART)是睾丸内异位的肾上腺残基过度增殖所致良性病变,是先天性肾上腺皮质增生症(CAH)的常见并发症之一,大多见于男性年长患儿,尤其是CAH控制不良者。临床以睾丸肿块为特征,与其他睾丸肿瘤的鉴别主要依据病史、病灶部位、阴囊彩超、血生化检查及病理活检。TART是导致CAH男性儿童远期睾丸功能受损、成年后生育力降低的主要原因之一,早期诊断和治疗可避免不可逆的睾丸功能损害。     

睾丸内肾上腺残余瘤诊治

睾丸内肾上腺残余瘤(TART)是睾丸内异位的肾上腺残基过度增殖性良性病变,是先天性肾上腺皮质增生症(CAH)并不少见的并发症,是导致CAH男性患儿成年后睾丸功能障碍及生育力降低的主要原因之一。早期诊断和治疗可避免不可逆的睾丸功能损害。对TART的发病机制、临床表现和分期、诊断及治疗进展集中阐述很有必要。     

睾丸残基瘤的诊治进展

先天性肾上腺皮质增生症(congenital adrenal hyperpla-sia,CAH)患儿的睾丸内残留有肾上腺细胞,部分CAH患儿睾丸内的肾上腺残余细胞(adrenal rest cell)在各种因素作用下形成的良性增生结节, 即睾丸残基瘤(testicular adrenal rest tumours,TART).目前临床上对CAH的诊治已有较深入的了解,但对TART的诊治尚缺乏系统的阐述.而且在TART的病因、诊断、鉴别诊断、手术方式的选择等方面仍存在不少争议.本文就针对TART的病因、分期、临床表现、诊断、鉴别诊断、影像学特点'、治疗及其预后等问题作一综述.     

先天性肾上腺皮质增生症5例

目的提高对先天性肾上腺皮质增生症的认识、探讨诊断及治疗措施。方法总结5例先天性肾上腺皮质增生症的临床资料。3例生后即表现两性畸形,均有不同程度的口唇、乳晕、外阴部皮肤、黏膜色素沉着,反复呕吐、腹泻,严重脱水症状;尿17酮类固醇显著升高4例,且有高血钾、低血钠及代谢性酸中毒等实验室表现;5例行肾上腺CT平扫,均显示双侧肾上腺增大。5例均行皮质激素替代治疗,手术阴蒂切除治疗2例。结果3例随访2~4年,皮质激素替代治疗中常见生长发育指标(身高、体质量等)与正常同龄儿童无明显差异。结论对儿童先天性肾上腺皮质增生症应尽早诊断、尽早使用肾上腺皮质激素替代治疗、可使患儿正常发育。     

6月龄以内婴儿结节性硬化症临床特征分析

目的探讨6月龄以内婴儿结节性硬化症(TSC)的临床特点。方法回顾分析15例6月龄以内确诊为TSC患儿的临床资料。结果 15例患儿男6例、女9例。因癫痫就诊13例,表现为婴儿痉挛8例,因产前发现心脏肿瘤就诊2例,可见3个以上色素脱失斑10例。15例患儿头颅磁共振成像均显示有室管膜下结节,其中13例同时合并皮质下结节; 8例心脏超声检查提示多发横纹肌瘤;11例行眼底检查者中9例发现眼底错构瘤;2例行基因检查均阳性。结论癫痫为6月龄以内婴儿TSC的主要就诊原因,细致的体格检查、头颅磁共振成像、心脏B超及眼底检查对早期TSC诊断具有重要意义。     

新生儿先天性肾上腺皮质增生症12例

目的探讨先天性肾上腺皮质增生症在新生儿期的诊断及治疗。方法分析新生儿先天性肾上腺皮质增生症12例的临床表现，结合血钠、钾、血17-羟孕酮(17-OHP)、睾酮(T)、雌二醇(E2)及肾素等检查进行诊断，并用激素替代治疗。结果诊断为21-羟化酶缺乏失盐型11例，单纯男性化1例。1例确诊后放弃治疗，余11例治疗好转出院；2例发生感染后出现失盐危象，第2次住院治疗；1例女性患儿病情稳定，2岁时行阴蒂短缩术。结论本病早期诊断及治疗可防止新生儿肾上腺危象、休克、后遗症发生及死亡。     

儿童睾丸旁肿物的诊治分析(附27例报告)

目的总结儿童睾丸旁肿物的诊治经验, 以期提高儿童睾丸旁肿物术前诊断水平, 制定合理个体化治疗方案。方法回顾性分析2010年1月至2021年5月经北京儿童医院手术治疗的27例睾丸旁肿物患儿临床资料。患儿平均年龄为7.4岁, 范围为0.3～14.5岁。肿物位于左侧12例, 右侧14例, 双侧1例。患儿术前均接受体格检查及超声检查。自发现睾丸旁肿物至接受手术的平均时间为4.5个月, 范围为1周至3年。患儿经腹股沟切口精索高位结扎瘤睾切除术8例, 经腹股沟切口保留睾丸睾丸旁肿物切除术1例, 经阴囊切口保留睾丸单纯睾丸旁肿物切除术18例。6例睾丸旁横纹肌肉瘤患儿均无淋巴结及远处转移, 均按低危组以长春新碱+放线菌素D+环磷酰胺组合化疗;1例白血病转移患儿术后继续化疗;其余患儿术后未予其他治疗。结果病理结果为良性肿物17例, 恶性肿瘤10例。良性肿物包括附睾囊肿10例, 脾组织(脾性腺融合)1例, 肾上腺残基瘤1例, 附睾平滑肌瘤1例, 婴儿纤维性错构瘤1例, 附睾纤维性假瘤1例, 脂肪母细胞瘤1例, 淋巴管瘤1例。恶性肿瘤包括睾丸旁横纹肌肉瘤(胚胎型)6例, 黑色素神经外胚层肿瘤1例, 高分化脂...     

先天性肾上腺皮质增生症的青春发育和治疗进展

21-羟化酶（21-OH）缺陷是先天性肾上腺皮质增生症最常见的类型,理糖和理盐激素分泌不足,雄激素过多分泌和孕激素及相关前体的过多堆积是其主要内分泌异常。21-OH缺陷患儿有青春发育异常、成年身高低下和远期生殖功能受损等表现,其机制涉及青春期皮质醇药代动力学改变,雄激素过多分泌所致下丘脑-垂体-性腺轴调控异常及其对性腺本身的损害和性腺内肾上腺残基瘤。治疗目标除了传统的以皮质醇抑制性替代治疗防止肾上腺危象和抑制雄激素分泌外,还亟需关注保护生长潜能、维护远期的性健康和生殖功能;但对高雄激素的满意控制至今仍是极大的挑战。该文叙述21-羟化酶患儿的青春发育、远期生殖力状况以及传统治疗以外的治疗进展。     

新生儿先天性肾上腺皮质增生症(附4例临床分析)

先天性肾上腺皮质增生症可在生后短时期内出现严重失盐症状,如呕吐、恶心、体重不升、喂养困难、嗜睡、脱水、体温低、低血糖、循环衰竭等症状.如诊断治疗不及时可迅速死亡.现报道我院近二年收治4例新生儿先天性肾上腺皮质增生症病例.     

小儿睾丸肿瘤23例诊治体会

目的 探讨小儿睾丸肿瘤的诊治方法.方法 回顾性分析深圳市儿童医院2005 ～ 2009年收治的23例睾丸肿瘤患儿临床资料,年龄2个月至9岁.多以无痛性阴囊肿块就诊.术前常规进行血清AFP、胸部CT、睾丸及腹膜后超声检查,睾丸MRI检查.采用高位精索离断式睾丸切除、睾丸瘤体剔除、腹膜后淋巴结清扫等术式,术中均行冰冻病理切片,术后根据瘤体性质进行相应化疗.随访6个月至5年,监测血清AFP动态变化,以及阴囊、腹股沟、腹膜后超声和胸片检查.结果 23例中,病理检查结果提示卵黄囊瘤11例,畸胎瘤8例,横纹肌肉瘤1例,精原细胞瘤1例,皮样囊肿2例.高位精索离断式睾丸切除术13例,睾丸肿瘤剔除术10例.获随访21例,平均随访时间19个月,卵黄囊瘤Ⅰ期9例,术后化疗1个疗程;Ⅱ期2例,术后1个月复查AFP阳性,PET检查提示阴囊残留复发1例,腹膜后转移1例.畸胎瘤8例,皮样囊肿2例,行保留睾丸的瘤体剔除术,均无瘤存活.结论 睾丸恶性肿瘤应行根治性睾丸切除术,卵黄囊瘤Ⅱ、Ⅳ期应采取手术加化疗.良性睾丸肿瘤可行肿瘤剔除术而保留睾丸组织.     

Testicular adrenal rest tumours in boys with congenital adrenal hyperplasia: case report and literature review

Nodular testicular lesions derived from adrenal tissue (testicular adrenal rest tumours - TART) in boys and men with congenital adrenal hyperplasia (CAH) lead to testicular structure damage, spermatogenesis disorders, and infertility. Hyperplasia of the ectopic adrenal tissue in testes is associated with high levels of the adrenocorticotropic hormone (ACTH) in blood serum. The development of non-invasive methods of diagnostic imaging allows detection of testicular lesions in adolescents and children. The basic method for TART detection is imaging with ultrasonography (USG) being the most widely available method. Since these mild testicular lesions can cause impaired fertility, periodic palpation and testicular ultrasonography should be performed in patients with CAH in order to prevent infertility.     

Macroorchidism: Consequence of untreated congenital adrenal hyperplasia

Testicular adrenal rest tumors (TART) are consequences of delayed diagnosis and/or undertreatment in patients with congenital adrenal hyperplasia (CAH). We describe a case of CAH with TART who presented with bilateral macroorchidism. He was managed with glucocorticoids which led to decrease in testicular size without restoration of spermatogenesis.     

Asymptomatic testicular adrenal rest tumours in adolescent and adult males with congenital adrenal hyperplasia: basal and follow-up investigation after 2.6 years

AIM: To study the course of asymptomatic testicular adrenal rest tumours in patients with congenital adrenal hyperplasia (CAH) and the association between tumour changes and glucocorticoid therapy adjustments. PATIENTS AND METHODS: Fifteen male patients with CAH (21-hydroxylase deficiency), in whom asymptomatic testicular adrenal rest tumours had been found at a baseline investigation, underwent scrotal ultrasonography and venous blood sampling (for LH, FSH and testosterone) on average 2.6 years later. The level of hormonal control was assessed by measurement of androstenedione in three diurnal saliva samples. Data on changes in glucocorticoid therapy since baseline were obtained from the patients' records. RESULTS: Tumour decrease, defined as > or =30% decrease in the sum of the longest diameter(s) of the lesion(s), was found in six patients; tumour increase, defined as > or =20% increase, in six and stable tumours in three patients. All three patients with overtreatment showed tumour decrease and of the six patients with undertreatment only one showed tumour decrease. Tumour increase was not only observed in undertreated patients but also in patients with adequate treatment. Changing the night dose of hydrocortisone into dexamethasone, to obtain prolonged ACTH suppression, had resulted in better adrenal suppression in only one patient. CONCLUSIONS: Tumour decrease could be achieved by aiming at adrenal oversuppression, but the required high glucocorticoid doses may induce side effects. In asymptomatic tumours in young male patients with CAH, a practical guideline could be to optimise adrenal suppression to a maximal tolerable glucocorticoid dose and to offer analysis and cryopreservation of semen as soon as the patient can be motivated.     

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??Testicular adrenal rest tumor??TART?? is benign tumour derived from ectopic adrenal cells that have migrated to the gonad in early fetal life. The development of TART is one of the most frequently detected complications and is a risk factor for infertility and gonadal dysfunction in male congenital adrenal hyperplasia??CAH?? patients. Early diagnosis and treatment can prevent the irreversible damage of testis. The etiology??clinical manifestations and classification??diagnosis and treatment of TART are essential to be studied.     

外周性性早熟患儿的病因及预后随访

目的：探讨外周性性早熟的病因及预后。方法：应用简化的促性腺激素释放激素（GnRH）激发试验测定卵泡刺激素（FSH）及黄体生成素（LH）、雌二醇（E2）水平,并采用B超检查及骨龄检测等方法对125例外周性性早熟患儿进行病因诊断。随访病例102例,随访时间3个月至7.5年。结果：125例患儿的病因分布为：摄入外源性性激素80例,卵巢囊肿11例,McCune Albright 综合征11例,先天性肾上腺皮质增生症（CAH）5例,卵巢畸胎瘤、男性化肾上腺肿瘤、女性化肾上腺肿瘤、垂体柄肿瘤各1例,另有14例患儿病因尚不能确定。预后：摄入外源性性激素者随访72例,均在1～6个月性征消退;11例卵巢囊肿患儿中,8例1~4个月性征自行消退,但其中1例2年3个月后转为中枢性性早熟;1例囊肿切除术后性征消退;卵巢畸胎瘤者术后性征消退;McCune Albright 综合征及CAH者治疗后临床症状减轻,7例转为中枢性性早熟;2例肾上腺肿瘤术后性征消退;1例垂体柄肿瘤术后1年死亡。结论：外周性性早熟病因多样,详细的病史、体检、辅助检查有助于早期明确诊断,不同病因预后不同。     

Pancreatic exocrine and endocrine function after pancreatectomy for persistent hyperinsulinaemic hypoglycaemia of infancy.

AIM: To evaluate long term detailed pancreatic endocrine and exocrine function in children with persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) after 85-95% pancreatectomy. METHODS: Six children with PHHI between 0.9 and 12.7 years after pancreatic resection underwent clinical and investigative follow up at 1.0 to 14.9 years of age. One child with PHHI who had not had pancreatectomy was also assessed. Standard endocrine assessment, pancreatic magnetic resonance imaging (MRI), and detailed direct and indirect tests of exocrine pancreatic function were performed. RESULTS: Pancreozymin-secretin stimulation test results were normal in only one child, borderline in two, and deficient in four, one of whom requires daily pancreatic enzyme supplements. Pancreolauryl tests performed in three children were borderline in two and abnormal in the other. Only one child had low faecal chymotrypsin values. One child developed insulin dependent diabetes at 9 years and two children at 1.0 and 13.3 years require diazoxide to maintain normoglycaemia. MRI showed no major regrowth of the pancreatic remnant after resection (n = 5). CONCLUSIONS: Clinical evidence of endocrine or exocrine dysfunction has developed in only two patients to date, but detailed pancreatic function testing suggests subclinical deficiency in all but one of our patients with PHHI. Although 95% pancreatectomy results in postoperative control of blood glucose, subclinical pancreatic insufficiency is present on long term follow up and development of diabetes mellitus and exocrine failure remain ongoing risks.     

21-羟化酶缺乏先天性肾上腺皮质增生症52例临床分析

目的 通过对21- 羟化酶缺乏先天性肾上腺皮质增生症(CAH)患儿的临床资料进行分析, 提高对CAH 的认识。方法 收集52 例被诊断为21- 羟化酶缺乏CAH 患儿的临床资料, 根据病情轻重、是否伴随失盐型表现分为单纯男性化型(n=15)、失盐型(n=28)和非典型型(n=9), 对不同类型CAH 患儿的临床资料进行比较分析。结果 52 例患儿中, 男女比1.6:1;起病年龄<1 个月41 例;有相关家族史4 例。单纯男性化型中最常见临床表现为阴蒂肥大(87%);失盐型患儿中最常见临床表现为色素沉着(89%)、喂养困难和(或)体重增长缓慢(61%);非典型型患儿中最常见临床表现为色素沉着(78%)。3 种类型患儿均有不同程度促肾上腺皮质激素、皮质醇、睾酮和雌二醇水平改变, 以失盐型为剧, 还常伴有高钾、低钠及代谢性酸中毒。经氢化可的松和(或)9-α 氟氢可的松等治疗后, 不同类型CAH 患儿皮质激素水平获得好转, 其中失盐型患儿皮质醇、睾酮、雌二醇、电解质水平较治疗前明显好转(P<0.05)。随访22 例, 9 例感染后病重再次住院, 8 例患儿有性早熟表现。结论 不同类型CAH 患儿临床症状有所差异, 尽早激素替代治疗对于改善患儿预后具有重要意义。     

Testis sparing surgery for steroid unresponsive testicular tumors of the congenital adrenal hyperplasia

The association between testicular tumors/nodules and congenital adrenal hyperplasia (CAH) has been recognized for many years. Tumors are considered to be an aberrant adrenal tissue that has descended with the testes and has become hyperplastic due to ACTH stimulation. The recommended treatment consists of increasing the glucocorticoid dose to suppress ACTH secretions. If the testicular size is not reduced after suppression therapy or a side effect of glucocorticoid dose is noted, surgical intervention should be considered. We diagnosed steroid unresponsive testicular tumors of the CAH in two patients who were treated by testicular sparing tumor enucleation. We believe that testis sparing surgery is the procedure of choice for all patients with testicular adrenal rest tumor, since it maximizes future fertility potential.     

Adiponectin levels are high in children with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency

Objective: It has been shown that adiponectin serves as an insulin-sensitizing adipokine. Serum concentrations of adiponectin are low in children with obesity, and increase with fat mass loss, indicating that adiponectin can serve as a biomarker. Since the prevalence of overweight and obesity is increased in children with congenital adrenal hyperplasia (CAH), our study aimed to evaluate serum levels of adiponectin in a cohort of CAH children and adolescents, and their associations with clinical parameters such as chronological age (CA), body mass index (BMI), Tanner stage (TS), medication and metabolic control.
Patients and methods: We studied 51 patients, aged between 5.6 and 19.6 years (median 11.8; 30 females, 21 males), cross-sectionally. All patients had genetically confirmed CAH and received standard steroid substitution therapy. Adiponectin was measured by an enzyme linked immunoassay. Since BMI SDS of the CAH cohort were significantly higher compared to the reference population, we built matched pairs with healthy Caucasian subjects from a normal representative cohort for sex, Tanner stage, chronologic age and BMI.
Results: Adiponectin concentrations were significantly higher in CAH patients (median 11 μg/L) compared to the matched controls (6.7 μg/L, p < 0.0001). Correlation analyses in CAH patients revealed a significant inverse relationship between adiponectin and CA, TS, BMI, serum DHEAS and serum testosterone, but no correlation with hydrocortisone and fludrocortisone dosage.
Conclusion: Currently, the importance of the elevated adiponectin concentrations in CAH children for risk assessment is not clear. However, our data imply that besides adequate metabolic control of glucocorticoid substitution, a long-term follow-up of other metabolic markers of insulin resistance should be conducted in CAH patients.     

Fertility in patients with congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) is generally regarded as a paediatric endocrine disease, but nowadays nearly all patients reach adulthood as a result of improved diagnosis and treatment. It is now increasingly recognised that treatment goals shift during life: one of the major treatment goals in childhood and puberty, i.e. normal growth and development, is no longer relevant after childhood, whereas other aspects, such as fertility and side effects of long-term glucocorticoid treatment, become more important in adulthood. This paper focuses on fertility in male and female adult patients with CAH. In males with CAH the fertility rate is reduced compared with the normal population, the most frequent cause being testicular adrenal rest tumours. Development and growth of these tumours is assumed to be ACTH dependent and undertreatment may play an important role. If intensifying glucocorticoid treatment does not lead to tumour decrease, surgical intervention may be considered, but the effect on fertility is not yet known. In females with CAH the degree of fertility depends on the phenotype of the CAH. Most fertility problems are seen in the classic salt-wasting type. Age of menarche and regularity of the menstrual cycle depends on the degree of adrenal suppression. Not only adrenal androgens have to be normalised but also the levels of adrenal progestins (progesterone and 17-OH-progesterone) that interfere with normal ovulatory cycles. The regularity of menstrual cycles can be considered as an important measure of therapeutic control in adolescent females with CAH and therefore as a therapeutic goal from (peri)pubertal years on. Other factors that contribute to impaired fertility in females with CAH are ovarian hyperandrogenism (polycystic ovary syndrome), ovarian adrenal rest tumours, genital surgery and psychological factors. Subfertility in CAH can have its origin already in the peripubertal years and is therefore of interest to the paediatric endocrinologist.