五例垂体柄中断综合征的临床诊断

目的 提高对垂体柄中断综合征(PSIS)的认识和诊断水平.方法 回顾分析5例PSIS患者的临床表现、垂体前叶及各靶腺轴和垂体后叶功能、影像学表现.结果 PSIS患者5例,其中男性4例,年龄17～21岁,3例有难产史,1例有头颅外伤史,均表现为不同程度的生长发育障碍,1例有畏寒、反应迟钝等甲状腺功能减退症状,均无多饮和低比重尿.所有患者存在生长激素缺乏、低促性腺激素性性腺功能减退和肾上腺皮质储备功能不足,4例患者同时存在中枢性甲状腺功能减退,3例临床并无相应表现.磁共振检查显示所有患者垂体柄和垂体后叶正常高信号消失,而在视交叉下(4例)、蝶窦内(1例)见到点状异常高信号,伴部分空蝶鞍.结论 PSIS以生长发育迟缓为主要临床表现,部分性或完全性垂体前叶功能减退而垂体后叶功能正常,磁共振检查呈现的特征性改变为重要诊断依据.     

垂体柄中断综合征一例

患者,男性,18岁,因生长发育停滞6年来院就诊。入院体检:身高155 cm,体重41 kg,智力发育正常,学习成绩一般,易疲劳,生殖器幼稚型,无阴毛、腋毛、喉结。父母非近亲结婚,分娩时为臀位产。基础生长激素0.08μg/L(正常值0.2 ~0.6),LH0.6 IU/L(正常值<15),FSH1.0 IU/L(正常值<15),PRL     

垂体柄中断综合征诊治进展

垂体柄中断综合征(PSIS)是以不同程度的垂体前叶激素分泌缺乏为主要临床表现的罕见疾病,其影像学特征为垂体柄缺如或纤细,常合并垂体后叶高信号异位、垂体前叶发育不良.目前病因仍不明确.鞍区动态增强MRI有助于明确诊断.各种垂体前叶激素替代是有效治疗手段.医生应加强认识、积极治疗,以改善患者预后.     

由垂体柄中断综合征(PSIS)谈生长激素缺乏的诊断思路

生长激素缺乏(GHD)患者磁共振表现为垂体柄中断(pituitary stalk iuterruption syndrome，PSIS)或垂体后叶异位并不少见，Osorio等报道经功能试验诊断GHD的患者中，垂体柄中断或垂体后叶异位者占71％。PSIS磁共振的特征是：垂体柄消失或明显变细，垂体后叶高信号在鞍内消失并出现在其他部位(如第三脑室漏斗部)。该患者符合PSIS的诊断。     

垂体柄阻断综合征的病因分析及诊疗进展

垂体柄阻断综合征(PSIS)的病因和发病机制目前尚不明确.近来研究表明,有遗传因素参与PSIS的发生、发展,尤以HESX1、LHX4基因缺陷最为密切.PSIS的临床表现复杂多样,随不同年龄及不同垂体激素缺乏而表现各异.早期诊治对患者激素缺乏症状的改善至关重要,MRI是唯一能明确此病诊断的影像学方法,胰岛素样生长因子及其结合蛋白3可与MRI联合提高对PSIS的诊断率.     

垂体甲状腺激素抵抗综合征1例报道并文献复习

甲状腺激素抵抗综合征(resistance to the thyroid hormone,RTH)又称甲状腺激素不敏感综合征(thyroid hormone insensitivity syndrome,THIS),是由于甲状腺激素受体(thyroid hormone receptor,TR)基因突变,或甲状腺激素(t...     

POEMS综合征三例报道并文献复习

POEMS综合征是一种罕见的与浆细胞异常有关的副肿瘤综合征,累及多个系统,起病隐匿,临床表现复杂多样,临床上误诊率及漏诊率均较高.目前POEMS综合征的发病机制尚未完全阐明,且无统一的治疗方案.本文回顾性分析2017—2021年陕西省人民医院收治的3例POEMS综合征患者的发病机制、临床表现、辅助检查、诊断、治疗,并结...     

肾上腺占位合并垂体病变的库欣综合征九例临床分析并文献复习

目的探讨垂体及。肾上腺均有病变的库欣综合征患者的病因诊断方法。方法回顾性分析9例垂体及肾上腺均病变的患者,行大小剂量地塞米松抑制试验,查血促。肾上腺皮质激素（ACTH）水平,并行鞍区MRI及肾上腺CT。结果（1）血ACTH值在4例库欣病患者中3例高于正常上限,1例正常。5例非ACTH依赖性库欣综合征患者ACTH均〈20ng／L。（2）大剂量地塞米松抑制试验服药第2日24小时尿游离皮质醇在ACTH依赖组均可被抑制到对照值的20％以下,ACTH非依赖组5例患者均未被抑制到对照的50％以下。（3）术后病理支持临床诊断。结论对于兼有肾上腺及垂体两处病变的库欣综合征患者需采用多种方法进行鉴别,最后的判定是术后病理及疗效。     

垂体后叶素治疗咯血致渗透性脱髓鞘综合征1例并文献复习

目的 分析垂体后叶素致渗透性脱髓鞘综合征(osmotic demyelination syndrome,ODS)的临床特征.方法 结合我院收治的1例应用垂体后叶素治疗咯血致ODS的患者的临床资料及国内外文献报道的病例进行综合分析.结果 患者女,43岁,因咯血在外院应用垂体后叶素5d后出现抽搐昏迷,查血钠105 mmol/L,予补钠后急转我院.入院查体肌张力增高,血清钠116 mmol/L,胸部CT示双下肺片状高密度影.头颅CT未见异常,予停用垂体后叶素、控制入水量及补充氯化钠溶液,患者神志渐清醒,但言语含糊,吞咽困难.颅脑MRI示桥脑及桥脑外长T1长T2信号影,考虑ODS.经营养神经及对症治疗后好转.结论 ODS是一种临床少见的继发性脱髓鞘疾病.垂体后叶素引起的ODS与过快纠正低钠血症有关.     

生长激素缺乏但持续增高:垂体柄中断合并垂体多激素缺乏一例报告及文献复习

报道一例垂体柄中断合并垂体多激素缺乏、包括经低血糖刺激试验发现生长激素缺乏、但表现为持续增高的病例.结合文献复习发现,此种非生长激素依赖的身高生长一般有垂体其他激素尤其是促性腺激素缺乏、骨骺未闭合为基础条件.     

Pituitary stalk interruption syndrome and liver changes: From clinical features to mechanisms

Pituitary stalk interruption syndrome (PSIS) is a rare congenital abnormality characterized by thinning or disappearance of the pituitary stalk, hypoplasia of the anterior pituitary and an ectopic posterior pituitary. Although the etiology of PSIS is still unclear, gene changes and perinatal adverse events such as breech delivery may play important roles in the pathogenesis of PSIS. PSIS can cause multiple hormone deficiencies, such as growth hormone, which then cause a series of changes in the human body. On the one hand, hormone changes affect growth and development, and on the other hand, they could affect human metabolism and subsequently the liver resulting in nonalcoholic fatty liver disease (NAFLD). Under the synergistic effect of multiple mechanisms, the progression of NAFLD caused by PSIS is faster than that due to other causes. Therefore, in addition to early identification of PSIS, timely hormone replacement therapy and monitoring of relevant hormone levels, clinicians should routinely assess the liver function while managing PSIS.     

Pituitary stalk interruption syndrome: A rare case report and literature review

Rationale:Pituitary stalk interruption syndrome (PSIS) is a congenital pituitary anatomical defect. It is characterized by the triad of thin or interrupted pituitary stalk, absent or ectopic posterior lobe, and hypoplastic or aplastic anterior lobe. Moreover, this condition is considered rare.Patient concerns:A 23-year-old male patient presented with a history of short stature and hypogonadism. Laboratory assessment revealed low thyroxine, cortisol, and adrenocorticotropic hormone levels, which are consistent with adrenal insufficiency without hypoglycemia. The insulin-induced hypoglycemia tolerance test finding indicated growth hormone (GH) deficiency. Moreover, magnetic resonance imaging revealed an interrupted pituitary stalk, ectopic posterior pituitary, and hypoplastic anterior pituitary. This triad of symptoms was indicative of PSIS.Diagnosis:

• 1.PSIS;
• 2.hypopituitarism: secondary hypothyroidism, secondary adrenocortical dysfunction, hypogonadotropic hypogonadism, and GH deficiency;
• 3.sphenoid sinus cyst;
• 4.osteoporosis;
• 5.hyperinsulinism; and
• 6.dyslipidemia.

Interventions:The patient was deficient in adrenaline, thyroxine, gonadal steroid, and GH. Thus, glucocorticoid replacement therapy was initiated, followed by euthyrox, androgen, and human chorionic gonadotropin treatment. Calcium tablets, calcitriol, and alendronate sodium were used for the management of osteoporosis. The patient was 164 cm tall, and his bone age was approximately 15 years old. However, owing to a poor economic condition, the family did not proceed with GH therapy.Outcomes:The patient did not present with adrenal or hypothyroidism crisis after receiving poly-hormonal replacement therapy. His secondary sexual characteristics began to develop. However, owing to a short treatment window period, the patient could not receive the required treatment. Hence, whether the patient would have a normal fertility function needs to be confirmed.Lessons:PSIS is a rare disease with various clinical characteristics. During the neonatal period and infancy, the signs and symptoms of PSIS are often not evident. Therefore, diagnosis is delayed. The early detection of hormone deficiency and treatment initiation can affect both the quality of life and the prognosis of patients with PSIS. Thus, the diagnosis and treatment of this disease must be improved to help patients achieve a better quality of life and to prevent reproductive health problems.     

Hypoglycemia and jaundice in newborns with pituitary stalk interruption syndrome

Pituitary stalk interruption syndrome (PSIS) is a rare disease associated with either isolated growth hormone deficiency (GHD) or combined pituitary hormone deficiency (CPHD). In older children and adults, most patients experience short stature or hypogonadism. Neonatal PSIS is extremely rare and is difficult to recognize due to absence of dwarfism. However, when this condition occurs in newborns, it is often life-threatening. Here, we collected patients with neonatal PSIS to clarify its characteristics to improve its early diagnosis.The patients included in this study were treated at the pediatric endocrine department of Shandong Provincial Hospital from January 2017 to July 2020. We obtained the clinical characteristics, endocrine hormone levels, pituitary magnetic resonance imaging (MRI) and further genetic data for all the patients. Hormone therapy was first given at the time of diagnosis, and the patients received regular follow-up.Three neonatal patients were identified in our clinic. The characteristics of these patients included hypoglycemia and jaundice, as well as CPHD, which included features such as micropenis and hypothyroidism. Genetic etiology was still hard to discover. All the patients responded well to alternative therapy, and the longest follow-up period was 3 years. Regular replacement ensures good prognosis.Sustained hypoglycemia and jaundice in newborns, indicate the presentation of PSIS. Early recognition is of great importance to avoid a life-threatening crisis.     

垂体肿瘤239例临床特征分析

目的 探讨垂体瘤的临床特征及治疗方案.方法 回顾性分析福建省立医院自1994年1月至2007年6月间收住的239例垂体瘤患者的临床资料.结果 239例垂体腺瘤中,男性93例(38.9%),女性146例(61.1%).诊断时的平均年龄为(43.8±14.9)岁(范围为3.9～77岁).依据临床表现、影像学及内分泌检查、免疫组织化学染色所示,催乳素瘤为最常见的肿瘤(26.8%).手术治疗179例(74.9%),其中经蝶入路108例(60.3%),经额入路71例(39.7%),非手术治疗及随访者60例(25.1%).结论 垂体瘤可表现为内分泌异常、神经系统症状或其他原因行MRI意外发现;催乳素瘤为最常见的肿瘤.     

Growth hormone deficiency and pituitary stalk interruption in Fanconi anemia

Fanconi anemia is a rare disorder inherited by recessive autosomic transmission belonging to the group of chromosomal instability syndromes. It is characterized by progressively developing medullary aplasia, various congenital malformations and especially a high risk of cancer, particularly acute myeloblastic leukemia and certain solid tumors. The association is quite common in patients with endocrine disease which constitutes an additional factor of morbidity and must be diagnosed and treated. We report a case of Fanconi anemia revealed by severe delay in statural growth and primary amenorrhea with a 21-year-old girl. The diagnosis was suggested by asymptomatic pancytopenia caused by a medullary hypoplasia and confirmed by a cytogenetic investigation using cross-linking agents that showed a large number of chromosomal breaks. Hormonal exploration revealed hypopituitarism with complete growth hormone (GH) deficiency and hypogonadotrophic hypogonadism caused by interruption of the pituitary stalk. The aim of this case report is to illustrate the importance of early exploration of retarded growth which, in some patients, can reveal potentially serious, and treatable, disease.     

生长激素缺乏但持续增高:垂体柄中断合并垂体多激素缺乏一例报告及文献复习

Normal function of growth hormone-insulin-like growth factor Ⅰaxis is essential for linear growth after birth. A case of continuous growth with undetectable growth hormone level even under insulinhypoglycemia stimulation was reported. The growth hormone deficiency was due to pituitary stalk interruption combined with deficiency of multiple pituitary hormones. Taken together with reviewed literature, this so-called nongrowth hormone-dependent linear growth was preconditioned by other hormones, especially gonadotropin deficiency,and the unclosed epiphysis.