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.     

垂体柄阻断综合征合并肝硬化1例报告

正垂体柄阻断综合征(pituitary stalk interruption syndrome,PSIS)是垂体柄缺如或变细并出现神经垂体异位,下丘脑分泌的激素无法通过垂体柄输送至垂体后叶所致的临床系列综合征[1]。PSIS临床少见,主要临床表现为生长激素缺乏导致的生长迟缓。目前为止尚未见PSIS引起肝硬化的病例报道。现报道1例以"呕血、黑便"入院,查体见发育迟缓、肝脾肿大,结合血液检验、影像学、肝穿病理等检查及既往史诊断为PSIS合     

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.     

老年垂体前叶功能减退症促性腺激素的变化及意义

目的检测老年垂体前叶功能减退症患者促性腺激素的变化,探讨促性腺激素水平在老年垂体前叶功能减退症患者的变化及诊断意义。方法对2005年6月至2010年2月解放军总医院内分泌科确诊的29例60岁以上无明确诱因首次诊断为垂体前叶功能减退症患者的临床表现、垂体相关激素指标进行回顾性分析。结果 (1)促性腺激素:黄体生成素(LH)低于正常值28例,占96.6%,卵泡刺激素(FSH)低于正常值27例,占93.1%;(2)促肾上腺皮质激素(ACTH)低于正常值27例,占93.1%;(3)促甲状腺激素(TSH)低于正常值18例,占62.1%。结论老年垂体前叶功能减退症患者促性腺激素水平降低多见,较其他垂体激素降低出现早,发生频率高,可作为老年垂体前叶功能减退症早期断的依据。     

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。     

程序性细胞死亡蛋白1抑制剂相关性垂体炎临床特征分析

目的探讨程序性死亡蛋白1(PD-1)抑制剂相关性垂体炎的临床特征。方法回顾性病例系列研究。收集2020年1月至2023年5月于河北大学附属医院及河北医科大学第三医院治疗的PD-1抑制剂相关性垂体炎患者的临床及随访资料, 分析其临床表现及预后。结果共纳入15例PD-1抑制剂相关性垂体炎患者, 其中男性13例, 女性2例, 发病年龄(62.1±7.5)岁, 发病时PD-1治疗周期6.5(4.7, 11.6)个。临床症状表现为消化道症状14例、疲乏12例、低血钠12例、低血钾1例、低血糖1例、低血压5例、发热1例。15例患者均表现为继发性肾上腺皮质功能减退, 4例继发性甲状腺功能减退, 2例继发性性腺功能减退, 未见垂体后叶功能减退。垂体MRI表现为空泡蝶鞍1例, 垂体小囊性病变1例, 垂体柄略向左偏移1例, 蝶鞍部高代谢、垂体异常信号1例, 11例未见异常。随访时间(47.66±11.93)周, 末次随访时, 1例血清促肾上腺皮质激素及皮质醇恢复正常。结论 PD-1抑制剂相关性垂体炎发病时间较晚, 临床表现以消化道症状及疲乏多见, 以肾上腺皮质功能减退为主要表现, 甲状腺及性腺功能减退次之...     

腺垂体功能减退症83例回顾性分析

目的探讨腺垂体前叶功能低下的病因、临床表现、诊断和治疗。方法对83例腺垂体前叶功能低下患者进行回顾性分析。结果83例中81%以上患者有性腺功能低下表现,甲状腺功能低下占71%,肾上腺皮质功能低下者不足60%,严重的肾上腺皮质功能低下者较少,发生低血压、低血钠和低血糖者在10%以下。结论垂体前叶功能减退在临床是少见病、疑难病,以靶腺的激素缺失为首要临床表现,需要用相应激素替代治疗,在临床工作中应予以重视。     

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.     

无功能性垂体腺瘤围手术期内分泌水平的变化及诊断进展

无功能性垂体腺瘤起源于垂体前叶上皮细胞,约占垂体腺瘤的1/3,大多数患者临床表现为头痛、视物模糊。但是部分患者术前及术后出现垂体功能减退。肿瘤对门静脉及垂体柄的压迫导致垂体前叶缺血坏死是引起垂体功能低下的主要机制,术中操作、肿瘤大小及残留都可导致新发垂体功能低下。术前主要以生长激素缺乏为主,而术后出现各个激素轴的改变。垂体功能减退容易被忽视,仅靠激素基础值的检测诊断远远不够,必要时需行刺激试验确诊。一旦明确垂体功能减退,充足的激素替代治疗能够提高患者的生活质量。     

女性特发性低促性腺激素性性腺功能减退症的临床研究——附16例病例回顾

回顾性分析本院2004年至2011年12月收治的16例女性特发性低促性腺激素性性腺功能减退症(nIHH)患者的临床资料及随访记录.16例患者均具有正常女性染色体核型,粗测嗅觉正常;无第二性征发育,促性腺激素及性腺激素水平显著低于正常,100μg GnRH兴奋试验提示11例LH峰值低于正常水平(11/15),GnRH延长兴奋试验提示垂体性腺激素储备功能尚可(6/6);双腕和双膝关节正位X线片提示骨骺愈合延迟(9/9).垂体MRI提示1例右侧嗅球、嗅束缺失(1/16);妇科超声提示1例无子宫及附件,余15例幼稚型子宫.1例有严重骨质疏松.1例诊断垂体柄中断症.激素替代治疗随诊6例,最长随诊5年,子宫及附件发育及乳房发育均改善.由于治疗开始时间,患者依从性诸多因素,nIHH治疗效果差异较大.对于育龄期患者,停止激素替代治疗后无病程逆转.     

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.     

Factors and markers of growth hormone secretion and gonadal function in Fanconi anemia.

Many factors may be involved in the growth and gonadal dysfunction of Fanconi anemia (FA). OBJECTIVE: To evaluate the (1) relationship between FA presentation, including genital abnormalities and pituitary stalk interruption syndrome (PSIS), (2) markers of growth hormone (GH) deficiency and gonadal function, and (3) factors influencing final height and gonadal function. PATIENTS: Twenty five patients with FA were included, 17 of them were given bone marrow transplantation. RESULTS: Six patients were diagnosed with GH deficiency and PSIS (group A), whereas 19 had no evidence of GH deficiency (group B). In group A, all patients had more than 3 FA malformations and all 5 boys had cryptorchidism associated with microphallus in 4. All patients had heights and plasma insulin-like growth factor I < -3SD. Final height was reached in 15 patients and was < or = -2SD in 12 of them, all but 3 were born small for gestational age and/or given norethandrolone and/or corticosteroids. Gonadal function was abnormal in 5/7 boys and 4/5 girls evaluated at pubertal age. The plasma concentrations were low in 4/9 for antimüllerian hormone and in 3/9 for inhibin B, 3 of them had been given bone marrow transplantation. CONCLUSIONS: PSIS can be part of a severe FA phenotype. It seems to occur mainly in boys, with more than 3 malformations, microphallus and cryptorchidism. This phenotype is associated with normal blood counts, defining a new clinical subgroup of patients.     

The pituitary stalk interruption syndrome: Endocrine features and benefits of growth hormone therapy

Introduction

Childhood anterior-pituitary insufficiency has many causes (malformative, genetic, traumatic, tumoral…). One particular entity can be clearly identified: pituitary stalk interruption syndrome (PSIS). The aim of our study was to analyse the long-term evolution of patients with PSIS.

Patients and methods

The records of all the children followed at Dijon University Hospital between 1990 and 2008 who underwent brain magnetic resonance imaging (MRI) and endocrinological evaluation that revealed a growth hormone (GH) deficiency were analysed. We thus selected 14 children diagnosed with PSIS according to the results of MRI. We studied the perinatal characteristics of these patients, then the auxological and the endocrine evolutions, before the initiation of GH therapy and then after 1 and 3 years of treatment and during the last evaluation.

Results

Fourteen children were diagnosed with PSIS at a mean ± sd age of 3.2 ± 3.5 years, five of whom being diagnosed during the first 2 months of life. Growth, as well as other anterior-pituitary deficiencies, was systematically followed up two to four times a year depending on the clinical context. The results in terms of endocrinology were analysed in all 14 children, and with regard to auxology in the 10 children who received GH therapy for at least 12 months, with a mean of 8.3 ± 4.2 years and at a mean maintenance posology of 0.22 ± 0.02 mg/kg per week. Among the 14 children, 12 had complete GH deficiency while two had a partial deficiency. Nine had multiple anterior pituitary deficiencies, diagnosed at the same time or later in five and four of them respectively. A clinical picture of panhypopituitarism was found in the infants who were diagnosed with PSIS in their first months of life. In the 10 children who were treated for at least 12 months, the height before treatment was −3.1 ± 0.8 standard deviation score (SDS). At the last consultation, the total gain in height was +2.5 ± 0.9 SDS compared to the distance to target height of +2.7 ± 0.6 SDS. The height gain after 1 year of treatment corresponded to 60% of the total gain.

Conclusion

In children with PSIS, the other anterior pituitary deficiencies are often associated with GH deficiency and sometimes during the first month of life. These functions therefore require to be carefully followed early, periodically and in the long term. Growth in these children responds particularly well to GH therapy, in particular during the first year.     

Prediction of postoperative diabetes insipidus using morphological hyperintensity patterns in the pituitary stalk on magnetic resonance imaging after transsphenoidal surgery for sellar tumors

Purpose

Diabetes insipidus (DI) remains a complication of transsphenoidal surgery (TSS) for sellar and parasellar tumors. Antidiuretic hormone (ADH) appears as hyper intensity (HI) in the pituitary stalk and the posterior lobe of the pituitary gland on T1-weighted magnetic resonance (MR) imaging. Its disappearance from the posterior lobe occurs with DI, indicating a lack of ADH. The appearance of HI in the pituitary stalk indicates disturbances in ADH transport.

Methods

This retrospective study included 172 patients undergoing TSS for sellar tumors at our institute from 2006 to 2014. Sequential T1-weighted MR images without enhancement were evaluated for HI in the pituitary stalk and the posterior lobe to assess the localization of ADH before and at intervals after TSS. DI was assessed pre- and postoperatively. HI in the pituitary stalk showed the following morphology: (1) ovoid in the distal end of the pituitary stalk (group A), (2) linear in the distal part of the pituitary stalk (group B), (3) linear in the whole pituitary stalk (group C).

Results

Preoperative DI occurred in 6 patients (3.5 %) with no HI observed in the posterior lobe. Postoperative DI was transient in 82 patients (47.7 %), and permanent in 11 (6.4 %). One week after surgery, HI was absent in the posterior lobe in 74 patients (43.0 %), and present in the pituitary stalk in 99 patients (57.6 %); both were significantly correlated with postoperative DI (p < 0.001). The absence of HI in the posterior lobe (A, 48.9 %; B, 68.3 %; C, 92.3 %), persistence of DI (A, 3.7 days; B, 45.9 days; C, 20.5 months), and duration until HI recovery in the posterior lobe (A, 3.6 months; B, 6.8 months; C, 22.9 months) were greatest in group C, followed by group B, and then group A. Fourteen group A patients did not have postoperative DI despite having HI in the pituitary stalk and the posterior lobe. Four group C patients developed permanent DI with persistence HI in the pituitary stalk.

Conclusion

HI in the pituitary stalk and its absence in the posterior lobe indicated postoperative DI, which was transient if HI was detected in the pituitary stalk. DI duration could be predicted by the length of HI in the pituitary stalk, which corresponded to the degree of ADH transport obstruction.

     

Correlation between magnetic resonance imaging of posterior pituitary and neurohypophyseal function in children with diabetes insipidus.

The posterior pituitary lobe and stalk were studied by magnetic resonance imaging in 20 children with diabetes insipidus of different origins: primary familial autosomal dominant (n = 2) or idiopathic (n = 2), and secondary to craniopharyngioma (n = 6, resected in 5), to Langerhans cell histiocytosis (n = 5), to excessive water intake (dipsogenic; n = 3), to renal vasopressin insensitivity (n = 1), and to osmoreceptor dysfunction (n = 1). Of the four children with primary diabetes insipidus, the posterior bright signal was recognizable in two with the familial autosomal dominant form and one with the idiopathic form; in the latter, the pituitary stalk was thin, while it was normal in the first two patients; no posterior hyperintense signal with enlarged and gadolinium-enhanced pituitary stalk was observed in the fourth. The posterior hyperintense signal was absent without evidence of ectopic posterior pituitary tissue regeneration in five children with surgically removed craniopharyngioma and was doubtful in the child with unresected craniopharyngioma; the stalk was unrecognizable in all patients. In the five children with Langherans cell histiocytosis, the posterior bright signal was absent, while the stalk was normal in two and unexpectedly enlarged in three (uniformly in two and mainly at the level of median eminence and hypothalamus in one). All five patients with dipsogenic or nephrogenic diabetes insipidus or osmoreceptor dysfunction had normal images of posterior pituitary lobe and stalk. Normal posterior pituitary bright signal and stalk were found in all 25 healthy control children. Plasma vasopressin was undetectable in all patients except in nephrogenic one, in the child with osmoreceptor dysfunction, and in two of three dipsogenic children, the third mimicking partial neurogenic diabetes insipidus.(ABSTRACT TRUNCATED AT 400 WORDS)