Growth hormone deficiency in a patient with autoimmune polyendocrinopathy type 2

Autoimmune polyglandular syndrome (APs) type 2 is characterized by the presence of Addison's disease, in association with autoimmune thyroid disease and/or type 1 diabetes mellitus and is rare in children. A 12.5 yr old prepubertal boy presented with symptoms related to Addison's disease and a large goiter. He was euthyroid with positive thyroid antibodies, low cortisol, aldosterone and very high adrenocorticotropin (ActH) and renin levels. Growth hormone (GH) secretion and an MrI scan of the pituitary were normal. He was started on hydrocortisone, fludrocortisone and subsequently on L thyroxine. Eighteen months later, decreased growth rate was noted and GH deficiency was detected, apparently secondary to autoimmune hypophysitis. Interestingly, he did not develop any other pituitary hormone deficiencies. He was started on GH therapy and had a good treatment response in the next 3 years. the combination of adrenal and thyroid insufficiencies with autoimmune hypophysitis is a very rare manifestation of APs-type 2. GH deficiency as the only symptom of lymphocytic hypophysitis is extremely rare. In children with autoimmune polyendocrine disorders, careful monitoring of growth is needed. In the case of low growth rate, GH should be evaluated by dynamic tests and, if GH deficiency is detected, treatment with hGH must be initiated.     

Pituitary apoplexy: an endocrinologic emergency

A 32-year-old woman, a 73-year-old man and a 26-year-old pregnant woman presented with headache, vomiting, and variable presence of visual disturbances, impaired consciousness, and circulatory shock. All three had pituitary apoplexy. In the first patient lymphocytic hypophysitis was diagnosed, the second had a nonfunctional adenoma and the last patient probably also. All three patients were treated conservatively with full recovery of signs and symptoms. However pituitary insufficiency remained in all three. Pituitary apoplexy is an acute event with significant morbidity and mortality. The cause is a rapid expansion of, usually, a pre-existing, often not yet known, adenoma by massive haemorrhage or infarction. Pressure, among other things, causes hypopituitarism, meningism, compression of the chiasma opticum and visual disturbances. Although many predisposing factors have been identified, pituitary apoplexy is often an unpredictable event. Diagnosis is made by the typical clinical presentation, eye examination, MRI and by measuring pituitary hormones. Treatment is with suppletion of the deficient hormones and in selected patients by transsphenoidal decompression surgery.     

Pituitary hyperplasia

Pituitary hyperplasia is rare, difficult to diagnose and sometimes controversial. The hyperplasia could be physiologic which is usually reversible, or pathologic which varies in presentation from incidental to tumor like lesion with and without hormonal disturbance. Any pituitary cell is capable of undergoing hyperplasia in the presence of the right stimuli. In this article we summarize the various pathologic and morphologic features of each subtype of pituitary hyperplasia, give an account of the molecular, hormonal and cellular basis of this condition and outline its clinical significance, differential diagnosis and prognosis.     

Clinical thinking and decision making in practice. A patient with postpartum malaise, anorexia, and ventricular tachycardia]

A 34-year-old woman was hospitalised with hypotension, lethargy and ventricular tachycardia, five months after an uneventful pregnancy and delivery. Laboratory values were compatible with anterior (abnormal concentrations of adrenocorticotropin hormone, thyroid stimulating hormone, prolactin) and posterior (diabetes insipidus) pituitary gland insufficiency. An MRI scan revealed that there was no pituitary enlargement and that the pituitary stalk was normal. The prompt recognition of hypophysitis as a potentially fatal condition is important, as a life-saving treatment is available.     

腺垂体功能减退症及其危象的回顾性分析

目的分析腺垂体功能减退症的病因、临床表现及诊治。方法收治61例腺垂体功能减退症患者的临床资料进行回顾性分析。结果席汉氏综合征36例,垂体瘤12例,颅咽管术后放疗6例,空泡蝶鞍4例,自身免疫性垂体炎1例,大部分患者性腺功能缺乏最早,甲状腺激素次之,肾上腺激素缺乏较晚,67%患者3个靶腺功能均有减退。结论腺垂体功能减退症临床表现复杂,提高临床医生对该病诊治水平,避免误诊漏诊。     

An intrasellar germinoma with normal cerebrospinal fluid beta-HCG concentrations misdiagnosed as hypophysitis

A patient with an intrasellar germinoma leading to pituitary stalk thickening is reported. The patient, a 24-year old woman, presented with hyperprolactinemia, secondary hypothyroidism, and hypogonadotropic hypogonadism with no evidence of diabetes insipidus. Cerebrospinal fluid (CSF) examination revealed an increased number of lymphocytes and histiocytes. Although beta-HCG concentration was normal (<2 mIU/mL) in the CSF, increased beta-HCG concentration was detected in the serum. Systemic glucocorticoid treatment led to a decrease in CSF cell count, but no regression of the sellar mass was noted. A diagnostic biopsy was performed and showed an intrasellar germinoma. The patient underwent conventional radiotherapy. Complete resolution of the mass lesion and normalization of beta-HCG concentration in the serum were observed three months after radiotherapy. The presence of intrasellar mass lesion in association with pituitary stalk thickening may cause difficulties in the differential diagnosis. Histopathological examination is essential in equivocal cases in order to reach accurate diagnosis and apply the most appropriate therapy.     

Clinical reasoning and decision making in practice. A man with unilateral attacks of muscular rigidity following neck surgery for a malignant tumor

A 54-year-old man with a history of generalised tonic clonic seizures presented with complaints of daily unilateral stiffening of the limbs, preceded by paraesthesia. Two years before he had been treated with surgery and radiotherapy for a laryngo-pharyngeal carcinoma. Therefore, epilepsy due to intracerebral metastasis was suggested. However, neither CT nor MRI of the brain (with intravenous contrast) showed any abnormalities and the EEG showed no epileptiform discharges. Laboratory tests revealed elevated levels of thyroid-stimulating hormone in the blood, hypocalcaemia, hyperphosphataemia and hypomagnesaemia. In combination with the medical history, tetany was found to be the correct diagnosis. In this patient, tetany was caused by hypoparathyroidism secondary to surgery and radiotherapy in the neck region. He was treated with levothyroxine, magnesium, calcium, and vitamin D and recovered in a few weeks' time. Hypothyroidism and hypoparathyroidism are common complications after treatment (surgery, radiotherapy and/or chemotherapy) for laryngo-pharyngeal carcinoma and other malignancies in the neck region.     

Hypertrophic cervical spine pachymeningitis due to sarcoidosis: a case report

Hypertrophic pachymeningitis (HP) is a chronic, progressive diffuse inflammatory condition that leads to thickening of the dura mater and can be idiopathic or associated with sarcoidosis among other disorders. In this case report, we present a rare case of cervical spine HP in a 29-year-old woman in the post-partum period, who had a history of pituitary adenoma and juvenile rheumatoid arthritis. Magnetic resonance imaging (MRI) of the spine revealed a soft tissue mass and moderate cord compression. The patient underwent C3-C7 laminectomy. Pathological analysis of the cervical epidural mass demonstrated a reactive inflammatory cell process. Recurrence of symptoms and worsening of pachymeningitis on imaging studies warranted further work-up which revealed mediastinal/hilar lymphadenopathy. Transbronchial biopsy revealed non-caseating granulomatous disease consistent with sarcoidosis. The patient was started on oral steroids and eventually methotrexate with significant clinical and radiographic improvement. Follow-up imaging studies showed minimal dural thickening in the thoracic spine and eventually complete resolution. HP should be considered in a patient with spinal cord compression, myelopathy, and radicular pain of unclear etiology, and sarcoidosis should be considered in idiopathic cases.     

A prismatic case: A 31-year old man who did not miss his pituitary

Combined pituitary hormone deficiency (CPHD) is a rare disorder resulting from impaired production of several pituitary hormones. This report describes the 30-year history of a patient who has apparently lived without a pituitary. The patient, born in 1976, experienced recurrent episodes of hypoglycaemia (as low as 2.9 mg/dl) in early childhood and showed elevated liver enzymes up to the age of two years without specific diagnosis. At the age of approximately 13 years, he first presented at our Department of Paediatric Endocrinology (University Hospital for Children and Adolescents, Leipzig) with signs of hypopituitarism and a height SDS of - 5.4, a high pitched voice and hypogenitalism. Endocrine testing confirmed panhypopituitarism (GH 1.3 ng/mL, LH 0.8 mU/mL, FSH 0.1 mU/ml, ACTH <1.0 pmol/l, TSH 1.0 mU/l) and substitution therapy was initiated. Magnetic resonance imaging (MRI) of the sella turcica showed a planar, hypoplastic and empty sella with pituitary stalk aplasia and ectopic neurohypophysis. Currently nearly 31 years of age, though taking his medication irregularly or not at all, he claims to be in good mental and physical condition irrespective of compliance or non compliance with substitution therapy. This case illustrates the importance of continued follow-up in patients with hypopituitarism and a systemic transferral of adolescents with CPHD to the care of adult endocrinologists.     

A hypersexual paraphilic patient treated with leuprolide acetate: a single case report

This article presents the case of a young adult paraphilic patient with no comorbid psychiatric or medical pathology. This patient's history is notable for hypersexuality and exhibitionistic behaviors. He was treated with the Luteinizing Hormone-releasing Hormone (LHRH) agonist leuprolide acetate. Shortly after he commenced treatment, his sexual drive and his urge to expose himself diminished significantly. Serial penile plethysmograph and hormonal profile data will also be reviewed.     

Fractionated stereotactic radiation therapy for orbital optic nerve sheath meningioma - a single institution experience and a short review of the literature

Optic nerve sheath meningioma (ONSM) is a rare orbital tumor that generally induces a slow progressive visual loss in affected patients. Radiotherapy (RT) has currently become the first choice to treat ONSM. In this study our experience in ONSM treatment with fractionated stereotactic radiotherapy (FSRT) is reported. Five patients with diagnosis of orbital ONSM were treated between April 2007 and December 2009 at the Radiation Oncology department of our institution. All patients underwent history and physical, and ophthalmic examinations. Orbital MRI was performed before and 6 weeks after treatment; thereafter every 6 months for the first 2 years. By previous stereotactic localization of the target, RT was delivered with 28 daily fraction of 1.8 Gy by multiple non coplanar arcs dynamically conformed by a micro multileaf-collimator. At diagnosis, in all 5 patients, visual acuity limitations of different degrees were found, while exophthalmos was present in 2, diplopy in 2, orbital pain in 1, and proptosis in 1. In all patients pre-treatment MRI showed an orbital mass involving the optic nerve. After radiotherapy, previous symptoms improved in all patients. However, after RT the MRI consistently showed a stationary status compared to the MRI before RT. At a median follow up of 26 months (range 9-37) all patients had a subjective and/or objective better visual performance than before RT without any evidence of disease progression. No late side effects were recorded. Accordingly to the current literature, our experience confirms the efficacy and the safety of FSRT in patients with orbital ONSM.     

Gynaecomastia and male infertility as symptoms of a nonpalpable Leydig cell tumour

A 35-year-old man and his partner were referred for intracytoplasmic sperm injection treatment (ICSI) because of secondary infertility due to severe oligoasthenoteratospermia. Three years earlier he had presented elsewhere with left unilateral gynaecomastia. A hypertrophic mammary gland had been excised one year later. Histopathological investigation showed benign hypertrophy. One year later he developed gynaecomastia on the other side. Physical examination and incomplete hormonal screening showed no abnormalities. The couple were referred to our tertiary clinic for ICSI treatment. The patient still had unilateral gynaecomastia. Hormonal screening showed not only severe oligoasthenoteratospermia, but also an elevated serum oestrogen level. Scrotal ultrasound revealed a 17 mm mass in his right testicle. Subsequently unilateral orchidectomy was performed. Histology showed a benign Leydig cell tumour for which no further therapy was required. Four months after surgery the gynaecomastia diminished, oestrogen levels became normal and improvement in semen parameters followed. Patients with severe male infertility or gynaecomastia are at a higher risk of developing a testicular neoplasm. Besides history taking, physical examination of breasts and testicles, hormonal screening and scrotal sonography should be performed as some testicular neoplasms are not apparent on palpation.     

Portomesenteric vein thrombosis following sleeve gastrectomy: Case report focusing on the role of pathogenetic factors

IntroductionSleeve gastrectomy has currently become the most commonly performed bariatric. procedure worldwide according to the last IFSO survey, overtaking gastric bypass with. a share of more than 50% of all primary bariatric-metabolic surgery. Gastric leak, intraluminal bleeding, bleeding from the staple-line and strictures are the most common complications. Portomesenteric vein thrombosis (PMVT)after sleeve gastrectomy is. another complication that has been increasingly reported in case-series in recent.years, although it remains uncommon. In this case report is described an extended portomesenteric vein thrombosis after. sleeve gastrectomy interesting splenic vein too with a favorable course and an. uneventful follow-up. We try to search in this case for pathogenetic factors involved in. this complication.Case reportA 42-year old man, with a body mass index (BMI) of 45 kg/m2, with a medical history of Obstructive Sleep Apnea Sindrome (OSAS) underwent laparoscopic sleeve gastrectomy. Early postoperative course was uneventful. Six days after discharge he complained abdominal pain and was admitted at the Emergency Department. A CT scan with intravenous contrast showed an occlusion of the portal vein, of the intrahepatic major branches and an extension to the superior mesenteric vein and the splenic vein. The patient received heparin and oral anticoagulation together with intravenous hydration and proton pump inhibitors. Considering the favourable course the patient was discharged after six days with long-term oral anticoagulation therapy. Anticoagulation with acenocumarol was continued for six months after a CT scan showed resolution of the PMVT without cavernoma. He had no recurrence of symptoms.DiscussionPorto-mesenteric thrombosis after sleeve gastrectomy is a rare complication but it has been increasingly reported over the last 10 years along with the extensive use of sleeve gastrectomy. Because PMVT is closely associated with sleeve gastrectomy in comparison with other bariatric procedures, we need to investigate what pathogenetic factors are involved in sleeve gastrectomy. Thrombophylic state, prolonged duration of surgery, high levels of pneumoperitoneum, thermal injury of the gastroepiploic vessels during greater curvature dissection, high intragastric pressure, inadequate antithrombotic prophylaxis and delayed mobilization of the patient after surgery have been reported as pathogenetic factors of portmesenteric vein thrombosis. Most of the cases presented in the literature such as our clinical case resolve with medical therapy, although portal vein thrombus extends into the superior mesenteric vein and the splenic vein.ConclusionPortomesenteric venous thrombosis is a rare but serious complication of bariatric surgery, especially associated with sleeve gastrectomy. Diagnosis is based on CT examination with intravenous contrast, and initial therapy is anticoagulation. Etiologic factors reported in the literature include a long duration of surgery, a high degree of pneumoperitoneum, high intragastric pressure after sleeve gastrectomy and thermal injury to the short gastric vessels and gastroepiploic arcade. Limited operative time, controlled values of pneumoperitoneum, careful dissection with energy device of gastric greater curvature, appropriate prophylaxis with low molecular weight heparin may be useful tools to prevent and limit this complication. Nonetheless we have to search which factors may condition the evolution of an extended PMVT as that described in this case towards resolution or to a further worsening clinical state. Early diagnosis? Correct treatment? Undiscovered patientrelated factors?     

Pituitary response to LHRH in long-term users of injectable contraceptives

The site of gonadotrophin inhibition in longterm users of injectable contraceptives is still debatable. The pituitary response to LHRH (50 ug, I.V.) was assessed in 32 women. Sixteen cases were using either medroxyprogesterone acetate (DMPA; n = 8 150 mg I.M. every three months) or norethisterone enanthate (NET-EN; n = 8, 200 mg every 2 months) for at least 18 months. The remaining cases (n = 16) were normal fertile females not using any hormonal contraceptive (control group). The pituitary response to LHRH injection in both injectable subgroups was nearly identical to that in the control group. Neither the basal levels nor the net increase in gonadotrophins following LHRH injection were significantly different in the study groups from those of the control group. Long-term use of DMPA or NET-EN does not affect the pituitary responsiveness to LHRH injection and the pituitary is not a primary site for ovulation inhibition in these cases.     

垂体MR图像质量控制及扫描方式的研究

目的：探讨垂体MR检查的理想扫描方法,以提高垂体MRI图像质量。方法：选择40例疑似垂体微腺瘤志愿者的MR扫描图像,按扫描方不同分组：常规组SE序列分为A组（不加饱和技术）和B组（加饱和技术）,研究组FE序列分为A1组（不加饱和技术）和B1组（加饱和技术）,观察垂体及周围解剖结构和细节的显示情况,将质量分为优、良、差3级。采用SPSS统计软件对所得的数据进行统计分析。结果：FE序列加饱和技术能够清晰显示垂体及相关解剖结构。B1组的扫描方法与常规组及A1组相比,图像质量明显提高,P〈0.05。结论：使用FE加饱和技术能够提高图像质量,缩短工作时间,提高工作效率。     

Brucellosis as an imported disease in a young man with arthritis

A 23-year-old man was admitted to hospital with an extremely painful sacroiliitis on the left side. He had been back in The Netherlands for 5 weeks after a one-year stay on a farm in India where he consumed unpasteurised cow's milk almost daily. Three months before admission he had been ill for several weeks with high fever, a painful right hip joint and night sweats. He was diagnosed in India as having coxitis, thought to be due to a Giardia infection. After hospitalisation in The Netherlands, he developed daily high fever with chills and Brucella sacroiliitis was diagnosed via a positive serology, later confirmed by a positive blood culture for Brucella melitensis. The patient was treated with doxycycline and rifampicin but due to persistent fever, gentamicin was later added for 7 days. As a result of nausea related to rifampicin, this was changed to ciprofloxacin. During treatment he also developed a severely painful right coxitis, possibly due to local release of bacterial endotoxins from a previous Brucella infection in India. After three months of antibiotic treatment, he recovered fully. Although brucellosis is a rare imported disease in The Netherlands, the possibility must be kept in mind in cases of arthritis following a stay in the (sub)tropics.     

A Pilot Study of Multicriteria Decision Analysis for Valuing Orphan Medicines

ObjectiveTo pilot the use of multicriteria decision analysis to establish and apply a framework of weighted attributes to value orphan medicinal products.MethodsLiterature searches on the natural history and burden of 40 rare diseases and of how payers assess treatment value and three workshops with, respectively, GlaxoSmithKline managers working on orphan medicinal products, European Union clinical and health economics experts, and representatives of rare diseases patient groups in the European Union.ResultsEight nonmonetary attributes were identified and weights agreed: four concern the disease being treated and four the treatment itself. About half of the weight went to attributes of the disease treated and half to attributes of the treatment. Patient group representatives gave greater weight than did the experts to patients’ and carers’ quality of daily life.ConclusionsThe multicriteria decision analysis approach piloted works and could be developed for use by payers and health technology assessment bodies.     

神经内镜经单鼻孔-蝶窦入路切除垂体腺瘤38例疗效观察

目的探讨神经内镜下经单鼻孔-蝶窦入路切除垂体腺瘤临床效果。方法38例垂体腺瘤患者均行CT和MRI检查证实,采用单鼻孔-蝶窦入路,单纯神经内镜下切除垂体腺瘤。结果随访时间3~24个月,本组患者内分泌症状得到不同程度改善。肿瘤全切35例(92.1%),其余3例(7.9%)显示肿瘤部分残留,术后无死亡病例。结论神经内镜下经单鼻孔-蝶窦入路切除垂体腺瘤技术是一种安全、有效、并发症少的微侵袭手术方法,值得临床应用。     

二氯乙烷中毒性脑病五例临床及头颅MRI分析

目的 探讨1,2-二氯乙烷(1,2-DCE)中毒性脑病的临床特点、头颅MRI特征及治疗.方法 对5例1,2-DEC中毒性脑病患者的临床、头颅MRI及治疗进行观察和分析.结果 该组5例患者均为亚急性起病,临床表现无特征性,腰穿检查示脑脊液压力增高.肝肾功能未见异常;头颅MRI示,两侧大脑半球白质、两侧小脑齿状核、两侧苍白球对称受累,T-1WI呈略低信号,T-2WI呈较明显高信号.经长期、足量使用脱水剂、糖皮质激素治疗,4例患者症状明显好转,1例短期停用,死于突发脑疝.结论 1,2-DEC中毒性脑病主要的神经系统表现为颅高压症状;明确的接触史及头颅MRI表现有助于诊断.早期、长程、足量使用糖皮质激素及脱水降颅压治疗,预后良好.     

Bilateral testicular tumor in a young man with congenital 11β-hydroxylase deficiency

Adrenal rest tumor presenting as palpable testicular mass has been well described in boys and adult males with congenital adrenal hyperplasia. It develops most commonly in patients with 21- hydroxylase deficiency, but the entity may also occur in rare forms of congenital adrenal hyperplasia, including 11β-hydroxylase deficiency. Because the management of testicular adrenal rest tumors is substantially different from that applied in benign and malignant testicular tumors, an accurate differentiation between these entities is particularly important. Authors present the history of a young adult male with 11β-hydroxylase deficiency who developed adrenal rest tumors presenting as palpable bilateral testicular masses during treatment with glucocorticoids, then testicular masses showed a rapid regression after an adequate glucocorticoid treatment. Considering lessons obtained from this case, authors review the pathomechanism, symptoms, as well as current diagnostic and treatment modalities of testicular adrenal rest tumors.