Multiple endocrine neoplasia type I or Wermer syndrome is characterized by primary hyperparathyroidism, enteropancreatic endocrine tumor, and a pituitary pathology. A 35-year-old male presented with visual field defects, hyperprolactinemia, and hypogonadism. He also had multiple infraumbilical skin-colored nodules. A syndromal association of Wermer syndrome was derived using the dermal, pituitary, ...

Amyloidosis is a generic term that refers to the deposition of amyloid fibrils in bodily tissues. Its onset is usually after 40 years of age, with localized or systemic involvement associated with multiple myeloma or chronic inflammatory diseases, and can mimic various rheumatic syndromes. We report the case of a ...

Aquaporin-4 (AQP4) is the target autoantigen of an immunoglobulin G (IgG) autoantibody that distinguishes a spectrum of inflammatory demyelinating CNS disorders (the neuromyelitis optica [NMO] spectrum) from multiple sclerosis (MS) and other CNS demyelinating disorders.(1) Compelling evidence supports this IgG having a central role in the pathogenesis of NMO. AQP4 ...

Gerstmann-Sträussler-Scheinker syndrome (GSS) is a rare degenerative disorder of the central nervous system that belongs to the family of human spongiform encephalopathies, or prion diseases. GSS is almost always inherited and mostly carried in an autosomal dominant pattern. Nevertheless, GSS is genetically and phenotypically heterogeneous; among the different prion diseases ...

Refeeding syndrome is difficult to diagnose since the guidelines for identifying those at risk are largely based on subjective clinical parameters and there are no predictive biochemical markers. We examined the suitability of insulin-like growth factor 1 (IGF1) and leptin as markers to identify patients at risk of the refeeding ...

The Wunderlich Syndrome refers to spontaneous perirenal hemorrhage often associated with underlying renal pathology. We report the case of a 23-year-old female with advanced tuberous sclerosis who presented in hypovolemic shock secondary to rupture of one of her massive bilateral angiomyolipomas (AMLs). The patient was able to be managed conservatively ...

Thyroid hormone resistance syndromes are a group of genetic conditions characterized by decreased tissue sensitivity to thyroid hormones. Three syndromes, in which resistance to hormone action is respectively due to mutations in the gene encoding for thyroid hormone receptor TRβ, impaired T4 and T3 transport, and impaired conversion of T4 ...

Neurofibromatosis (NF) type I is a common autosomal dominant disease that principally affects the skin and peripheral nervous system. Neurofibromatosis type I associated multiple sclerosis is a very rare condition. A 28-year old NF1 man developed progressive spastic-ataxic gait, left side dysmetria, right internuclear ophthalmoplegia, spastic dysarthria. MRI of the ...

We present a case of a 47-year-old female who presented with sicca symptoms since three months. As per the Revised International Classification Criteria for Sjögren's syndrome, patient was diagnosed as primary Sjögren's syndrome (SS). Patients with SS are known to have circulating monoclonal immunoglobulins. Serum electrophoresis revealed M band with ...

The adrenal cortices produce various steroid hormones that play vital roles in several physiologic processes. Although permanent adrenocortical insufficiency is rare in all species, emerging evidence in both human and equine medicine suggests that transient reversible adrenocortical dysfunction resulting in cortisol insufficiency frequently develops during critical illness. This syndrome is ...

Objective Obesity is associated with the insulin resistance metabolic syndrome, postulated to be mediated by stress-induced alterations within the hypothalamic-pituitary-adrenal (HPA) axis. In adult bonnet macaques we examined relationships between components of the metabolic syndrome, hippocampal neurometabolic asymmetry, an indicator of negative affect, and juvenile cerebrospinal fluid (csf) corticotropin-releasing factor ...

Hypothyroidism can cause a variety of signs and symptoms of the neuromuscular system. However, ptosis in a patient with hypothyroidism is very rare. We report here on a case of central hypothyroidism that was due to Sheehan's syndrome and it manifested as bilateral ptosis in a 51-yr-old woman. She complained ...

Klinefelter syndrome is not easy to diagnose in childhood because of the absence of significant manifestations before puberty. Three main clinical signs should suggest the diagnosis in a child: small testes, tall stature, and mental retardation or learning problems. We present a patient with Klinefelter syndrome and short stature due ...

Sheehan's syndrome presents with panhypopituitarism after childbirth, usually preceded by post partum hemorrhage. Hematological abnormalities like pancytopenia with hypocellular marrow in these patients are reported rarely. Though multiple hormone deficiencies may contribute to Pancytopenia in Sheehan's syndrome, complete recovery is observed after achieving eucortisolemic and euthyroid state. The predominant role ...

Polycystic ovary syndrome (PCOS) is a heterogeneous syndrome characterized by oligo- or anovulation, clinical and/or biochemical signs of hyperandrogenemia and polycystic ovaries. Clinical expression is determined by both genetic and environmental factors. Dyslipidemia is very common in lean as well as in obese women with PCOS and should be considered ...

The increasing prevalence of metabolic syndrome and the consequent cardiovascular diseases, like atherosclerotic diseases and Type 2 diabetes has stimulated an active search for novel risk factors. The hormones regulating energy balance are of special interest as potential risk factors for metabolic syndrome and Type 2 diabetes. Ghrelin is a ...

We report the case of a 26-month-old boy with mental retardation, facial dysmorphism, childhood feeding difficulties, short stature, bilateral cryptorchidism, micropenis, and heart defect. Endocrinal evaluation revealed complete growth hormone deficiency (GHD) and gonadotropic deficiency, and pituitary magnetic resonance imaging showed partial pituitary stalk interruption syndrome (PSIS). A de novo ...

Ovarian hyperstimulation syndrome (OHSS) is a relatively common complication of ovarian stimulation and can be life threatening. The pathophysiology of OHSS is characterized by increased capillary permeability, leading to leakage of fluid from the vascular compartment, with third-space fluid accumulation and intravascular dehydration. The increased intra-abdominal pressure indicated that OHSS ...

The Asian variant of intravascular large B cell lymphoma is a special type of intravascular lymphoma with hemophagocytic syndrome and hypercytokinemia including interleukin-6, which stimulates antidiuretic hormone synthesis in the hypothalamus. We present here that the syndrome of inappropriate antidiuretic hormone secretion frequently occurs in patients with the Asian variant ...

Objective: To report a case of AIMAH associated with insulinomaMethods: We describe the clinical presentation of the case, discuss its management and review the current protocols for management of AIMAH and understanding of the aetiology of the disease.Results: A 64-year-old woman with multiple facial naevi experienced intermittent light headedness, tremor ...

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. This syndrome has a characteristic phenotype including severe neonatal hypotonia, early-onset hyperphagia, development of morbid obesity, short stature, hypogonadism, learning disabilities, behavioral problems, and psychiatric ...

Short stature with loss of secondary sex characters can occur due to genetic disorders. One of them is Kallmann's syndrome. The condition has been noted to be present in families. It is associated with anosmia and hypogonadism. We are presenting a case of young boy who was short statured and ...

Metabolic syndrome is a pro-atherosclerotic condition clustering cardiovascular risk factors, including glucose and lipid profile alterations. The pathophysiological mechanisms favoring atherosclerotic inflammation in metabolic syndrome remain elusive. Here, we investigated the potential role of the anti-lipolytic drug Acipimox on neutrophil- and monocyte-mediated inflammation in metabolic syndrome. Acipimox (500 mg) was ...

A 75-year-old woman with a history of stage IV metastatic melanoma underwent treatment with the CTLA-4 blocking agent Ipilimumab. She presented 2 months after initiating treatment with a severe headache. Laboratories were consistent with severe hyponatremia. MRI of the brain revealed enlargement of the pituitary gland, enhancement of the infundibulum, and ...

We studied a 55-year old woman presenting with features of Cushing's syndrome associated with metabolic abnormalities including severe hypertension and type 2 diabetes. Urinary free cortisol excretion was within normal limits, but an unusual diurnal cortisol rhythm was observed with low morning and high postprandial levels, associated with the absence ...

We present the case of a 73-year-old woman who presented with clinical features of Cushing's syndrome, confirmed biochemically with elevated levels of cortisol and adrenocorticotrophic hormone (ACTH). Petrosal venous sampling showed no ACTH gradient and MRI of pituitary was normal, suggesting ectopic ACTH production. In the course of further investigations, ...

To describe the diagnosis and treatment of antiphospholipid syndrome as it relates to spontaneous abortion. The relative importance of performing tests of antiphospholipid antibodies that prolong the partial thromboplastin time and other autoantibodies against phospholipids measured by ELISA are discussed. The most important diagnostic tests are the lupus anticoagulant, anticardiolipin ...

Fructose exists in food naturally or as a sweetening additive. It has been thought that fructose malabsorption may cause the gastrointestinal symptoms seen in patients with irritable bowel syndrome. However, fructose malabsorption is still poorly understood, and clinicians are still uncertain of its role. This review attempts to clarify the ...

Swyer syndrome is known as pure gonadal dysgenesis. Individuals with Swyer syndrome are phenotypically female with unambiguously female genital appearance at birth, and normal Mullerian structures. The condition usually first becomes apparent in adolescence with delayed puberty and amenorrhea due to the fact that the gonads have no hormonal or ...

Although the etiology of Takotsubo cardiomyopathy (stress-induced cardiomyopathy) is unknown, there is a wide variability in the psychological and physical triggers for Takotsubo cardiomyopathy. We report here a case of Takotsubo cardiomyopathy associated with severe hyponatremia.

Glucocorticoid action is mediated by glucocorticoid receptor (GR), which upon cortisol binding is activated and regulates the transcriptional expression of target genes and downstream physiological functions. 11β-Hydroxysteroid dehydrogenase type 1 (11β-HSD1) catalyzes the conversion of inactive cortisone to active cortisol. Since cortisol is also produced through biosynthesis in the adrenal ...

Neuromyelitis optica (NMO) has been reported to be associated with endocrinopathies, such as amenorrhea, galactorrhea, and diabetes mellitus. However, its association with the syndrome of inappropriate antidiuretic hormone secretion (SIADH) is extremely rare. We herein report an adult case of NMO with SIADH in a female Chinese patient. The patient ...

Restless legs syndrome is common in patients with multiple sclerosis but has not been reported as occurring due to an acute, inflammatory, demyelinating attack. Restless legs syndrome is known to be related to low brain iron levels. Multiple sclerosis has been associated with the abnormal accumulation of iron in the ...

To examine the appropriate treatment of oligo-terato-asthenozoospermic patients with metabolic syndrome, 45 patients were treated with metformin for 6 months. The use of metformin was associated with a statistically significant reduction in insulin resistance and sex hormone-binding globulin levels, a statistically significant increase in serum androgen levels, and a consequent improvement ...

Abstract Objective: To evaluate vertical and sagittal facial growth of children with the syndromes of Apert and Crouzon compared to the growth pattern of a non-syndromic control group. Design: Case-control study. Setting: Department of Orthodontics, Children's Hospital Erasmus MC, Sophia, Rotterdam, The Netherlands. Patients, Participants: 62 patients (37 patients with ...

In 1975 Antley and Bixler described an unusual syndromal disorder consisting of complex craniosynostosis with midfacial hypoplasia, dysplasia of ears and nose, radiohumeral synostosis, congenital fractures of the femur and upper airway impairment in a newborn. Additional urogenital and cardiac malformations can be associated however diagnosis is based on a ...

An increase in pro-inflammatory cytokines, decrease in endothelial nitric oxide (eNO) and adiponectin levels and an alteration in hypothalamic peptides and gastrointestinal hormones such as incretins and cholecystokinin that regulate satiety, hunger, and food intake occur in metabolic syndrome. Thus, metabolic syndrome is a low-grade systemic inflammatory condition and could ...

Ischemic pituitary necrosis due to severe postpartum haemorrhage called Sheehan's syndrome is a rare cause of hypopituitarism in the western world, but much more common in developing countries. A 45-year-old female patient being a war refugee from Chechnya with severe anaemia and fatigue was diagnosed at our outpatient department with ...

We have recently reported that progeroid Zmpste24-/- mice, which exhibit multiple defects that phenocopy Hutchinson-Gilford progeria syndrome, show a profound dysregulation of somatotropic axis, mainly characterized by the occurrence of very high circulating levels of growth hormone (GH) and a drastic reduction in insulin-like growth factor-1 (IGF-1). We have also ...

To explore the relationship between serum thyrotropin and components of metabolic syndrome in a Chinese cohort. A total of 1534 adult inhabitants in DaDong district of Shenyang were asked to fulfill the questionnaire, complete physical examination and OGTT. Blood samples were collected to test thyrotropin (TSH), fasting plasma glucose (FPG), ...

We present a case of a 60-year-old woman who initially presented with pneumonia and abdominal pain and was diagnosed with ectopic adrenocorticotropic hormone (ACTH) syndrome secondary to small cell lung cancer. We review published literature and summarize the typical challenges in the diagnosis and treatment of ectopic ACTH syndrome. Recent ...

KF is characterized by heterogeneity in the degree of expressed phenotypes. to ascertain the variable phenotypes of Klinefelter syndrome in children. We present eight klinefelter patients, their age ranged from 2 to 11 years (mean 6.63). Subjects were meticulously examined for evidence of dysmorphology. Intelligence quotient was estimated. Cytogenetic analysis ...

Classic Ehlers-Danlos syndrome is a heritable connective tissue disorder characterized by skin hyperextensibility, fragile and soft skin, delayed wound healing with formation of atrophic scars, easy bruising, and generalized joint hypermobility. It comprises Ehlers-Danlos syndrome type I and Ehlers-Danlos syndrome type II, but it is now apparent that these form ...

A patient with vascular type Ehlers-Danlos syndrome developed a large abdominal intercostal hernia secondary to coughing. The tissue friability and associated risks for arterial ruptures and visceral perforations in these patients make hernia repair challenging. The hernia was successfully treated using a novel approach.

We report a case of multiple triggering associated with Ehlers-Danlos syndrome. We postulate that the propensity for tendon degeneration in Ehlers-Danlos syndrome coupled with repetitive microtrauma might lead to fraying of the tendon fibers and, consequently, triggering. Indeed, in our case, debridement of the tendons rather than resection of A1 ...

Ehlers-Danlos Syndrome is a term that comprises a variety of inherited connective tissue disorders characterized primarily by skin hyperextensibility, joints hypermobility and excessive dislocations, easy bruisability, generalized fragility. If much is known about orthopedic or physiatric features of this syndrome, poor is known about the neurological ones. Thus neurological assessment ...

Ehlers-Danlos syndrome is an inherited disorder of the connective tissue characterized by increased elasticity of the skin, hypermobile joints and fragility of the vascular system. Vascular complications in these patients, requiring surgical repair, can be life-threatening with high perioperative morbidity and mortality. Reports of successful treatment of aortic ruptures or ...

Vascular Ehlers-Danlos syndrome is a rare genetic disorder resulting from mutations in the α-1 chain of type III collagen (COL3A1) and manifesting as tissue fragility with spontaneous rupture of the bowel, gravid uterus, or large or medium arteries. The heterozygous Col3a1 knockout mouse was investigated as a model for this ...

We previously described two unrelated patients showing characteristic facial and skeletal features, overlapping with the kyphoscoliosis type Ehlers-Danlos syndrome (EDS) but without lysyl hydroxylase deficiency [Kosho et al. (2005) Am J Med Genet Part A 138A:282-287]. After observations of them over time and encounter with four additional unrelated patients, we ...

Ehlers-Danlos syndrome (EDS) is a rare inherited disorder of the connective tissue that is characterized by hyperextensible skin, hypermobile joints and abnormalities of the cardiovascular system. A 15-year-old girl with Ehlers-Danlos syndrome underwent thoracolumbar surgery for deformity correction. After surgery, an abdominal aortic rupture occurred, and she complained of abdominal ...