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TouchREVIEWS in Endocrinology Apr 2024Pituitary infiltration by systemic lymphoma is an exceedingly rare occurrence. Given its high mortality rate, it is crucial to recognize its clinical, biochemical and...
Pituitary infiltration by systemic lymphoma is an exceedingly rare occurrence. Given its high mortality rate, it is crucial to recognize its clinical, biochemical and radiological features in order to provide timely intervention. We present the case of a 26-year-old male with a history of human immunodeficiency virus (HIV) infection who presented to the hospital with severe anemia, persistent fever, weight loss and diarrhea over the previous 4 months. Physical examination revealed a compromised general condition, fever, pallor, hepatomegaly and lymphadenopathy. Cervical lymph node biopsy confirmed Burkitt lymphoma (BL). During hospitalization, the patient developed polyuria, polydipsia, hypernatremia, fluid-resistant hypotension and hypoglycaemia. Corticosteroid therapy was initiated due to suspected adrenal insufficiency, resulting in clinical improvement but exacerbation of polyuria and hypernatremia. Plasma and urinary osmolarity confirmed arginine vasopressin deficiency, and assessment of anterior pituitary reserve revealed hypopituitarism, necessitating hormonal replacement therapy. Sellar magnetic resonance imaging with contrast revealed pituitary infiltration. The patient subsequently developed septic shock and died. BL accounts for approximately 10% of the cases of pituitary infiltration associated with lymphoma. Clinical presentation is heterogeneous, with panhypopituitarism often serving as the initial manifestation. Sellar magnetic resonance imaging plays a pivotal role in the differential diagnosis. Management typically entails chemotherapy, immunotherapy, radiation and hormonal replacement therapy. This case report describes a patient with BL and HIV infection who developed panhypopituitarism due to pituitary infiltration, an exceedingly rare presentation considered a medical emergency.
PubMed: 38812670
DOI: 10.17925/EE.2024.20.1.11 -
Medicine May 2021Pituitary stalk interruption syndrome (PSIS) is a rare disease associated with either isolated growth hormone deficiency (GHD) or combined pituitary hormone deficiency... (Observational Study)
Observational Study
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.
Topics: Birth Weight; Brain; Female; Hematologic Tests; Humans; Hypoglycemia; Hypopituitarism; Infant, Newborn; Jaundice; Male; Pituitary Diseases; Syndrome
PubMed: 34106625
DOI: 10.1097/MD.0000000000025843 -
Journal of Neurosurgery. Case Lessons Oct 2022Pituitary abscess is a rare clinical entity, typically precipitated by Staphylococcus, Pseudomonas, or Aspergillus infection. Although Nocardia species-associated...
BACKGROUND
Pituitary abscess is a rare clinical entity, typically precipitated by Staphylococcus, Pseudomonas, or Aspergillus infection. Although Nocardia species-associated central nervous system abscesses have been documented in immunocompromised patients, no case of Nocardia pituitary abscesses has been previously reported.
OBSERVATIONS
A 44-year-old man presented with hemoptysis and was found to have a cavitary right lung nodule, which was presumed histoplasmosis, prompting antifungal treatment. Several months later, he developed panhypopituitarism. Magnetic resonance imaging identified a pituitary mass, which subsequently underwent transsphenoidal endoscopic biopsy. Infectious workup was negative, and the patient was discharged on intravenous ertapenem therapy. Over several months, he developed progressive headaches, and updated imaging confirmed interval enlargement of the mass with new cavernous sinus invasion. He underwent repeat endoscopic biopsy, which yielded positive cultures for Nocardia farcinica and prompted successful treatment with trimethoprim-sulfamethoxazole and linezolid.
LESSONS
The current study highlights a previously unreported clinical entity, the first pituitary abscess attributable to Nocardia sp. or N. farcinica, which arose in a young, immunocompetent individual. Although rare, atypical infections represent an important component in the differential diagnosis for sellar mass lesions.
PubMed: 36317239
DOI: 10.3171/CASE22266 -
Revista Medica de Chile May 2023Langerhans-cells Histiocytosis (LCH) is a rare disease characterized by the clonal proliferation of immature dendritic cells that locally or diffusely infiltrate...
Langerhans-cells Histiocytosis (LCH) is a rare disease characterized by the clonal proliferation of immature dendritic cells that locally or diffusely infiltrate different systems, mainly affecting children. We present the case of a 38-year-old man with a long-standing history of multiple tooth loss without association with trauma, smoking, or poor dental hygiene. Skull computed tomography (CT) showed multiple lytic jaw lesions. Jaw biopsy and immunohistochemical results were compatible with the finding of LCH. The patient evolved with polyuria, polydipsia, and nocturia, confirming the presence of diabetes insipidus and panhypopituitarism through hormonal studies. Magnetic resonance imaging (MRI) of the brain shows a hypothalamic neoplasm with infundibular involvement and an image suggestive of a pituitary granuloma. The treatment consisted of maxillobuccofacial defocusing, hormonal supplementation, chemotherapy, and radiotherapy with favorable evolution.
Topics: Humans; Male; Hypopituitarism; Adult; Histiocytosis, Langerhans-Cell; Magnetic Resonance Imaging; Tomography, X-Ray Computed
PubMed: 38687548
DOI: 10.4067/s0034-98872023000500659 -
Internal Medicine (Tokyo, Japan) Aug 2023Cryptococcal meningitis is a critical disease that occasionally involves immunosuppressed patients. We herein report a 79-year-old Japanese man who received low-dose...
Cryptococcal meningitis is a critical disease that occasionally involves immunosuppressed patients. We herein report a 79-year-old Japanese man who received low-dose prednisolone therapy for neurosarcoidosis and panhypopituitarism. He presented a 10-day history of a fever and altered mental status. The FilmArray Meningitis/Encephalitis Panel and serum cryptococcal antigen tests were both negative, but the cerebrospinal fluid sample became positive for Cryptococcus neoformans after seven-day incubation. After the diagnosis of cryptococcal meningitis, we successfully treated the patient with a recommended treatment regimen. When an immunocompromised patient presents with a subacute fever accompanying any central nervous symptoms, cryptococcal meningitis should be screened for.
Topics: Male; Humans; Aged; Meningitis, Cryptococcal; Cryptococcus neoformans; Sarcoidosis; Prednisolone; Meningitis
PubMed: 36575015
DOI: 10.2169/internalmedicine.0879-22 -
International Journal of Endocrinology... Jan 2023A female patient, 48 years of age, with a complaint of recurrent episodes of diffuse chest pain, vertigo, and shortness of breath in the last five years, presented...
INTRODUCTION
A female patient, 48 years of age, with a complaint of recurrent episodes of diffuse chest pain, vertigo, and shortness of breath in the last five years, presented needing immediate medical attention.
CASE PRESENTATION
The patient was evaluated and suspected of severe hypotension, cold hands, and feet with distended neck veins and muffled heart sounds. ECG revealed low voltage complexes and large pericardial effusion with a collapse in the diastole of the right auricle and ventricle. The provisional diagnosis was kept as pericardial effusion with hemodynamic compromise. Detailed history disclosed that she had suffered similar events five years before, during which a pericardial tap was performed, and the patient was on anti-tuberculosis treatment for nine months. The symptoms continued despite the treatments. She had a history of severe postpartum hemorrhage, failure of lactation, and early menopause with a history of hysterectomy dated ten years back. The biochemical study indicated decreased LH, FSH, TSH, ACTH, and serum cortisol levels. MRI brain revealed empty sella. The hormonal replacement was started with clinical improvement.
CONCLUSIONS
Although hypothyroidism is an extremely rare cause of pericardial effusion, detailed history and further investigations are imperative to form a definitive diagnosis.
PubMed: 36945343
DOI: 10.5812/ijem-131341 -
Frontiers in Endocrinology 2020The mutation frequencies of pituitary transcription factors genes in patients with combined pituitary hormone deficiencies (CPHD) vary substantially between...
The mutation frequencies of pituitary transcription factors genes in patients with combined pituitary hormone deficiencies (CPHD) vary substantially between populations. However, apart from the mutation rate of other genes is low and for almost half of the patients with CPHD the routine sequencing of known genes is unsuccessful in the identification of genetic causes. A cohort of 66 sporadic and nine familial CPHD cases (80 patients in total) were subjected to initial testing of the genes , and using a targeted gene panel and MLPA. In patients who tested negative, a whole exome sequencing approach was employed. In nine of the familial cases and 32 of the sporadic patients mutations in the gene were found (the common pathogenic variants included c.301_302delAG and c.150delA). Mutations were also found in genes so far not related directly to CPHD. A unique homozygous and clinically relevant variant was identified in the gene, which may contribute to neural development and his phenotypic spectrum including short stature and isolated hypogonadotropic hypogonadism (IHH). Another pathogenic variant p.A1672T was found in the gene reported to be responsible for delayed puberty and neuronal migration during embryogenesis. Several suspected novel but predicted benign variants were also identified for the and genes. Although defects account for a majority of CPHD patients, identification of rare, less frequent variants constitutes a big challenge. Multiple genetic factors responsible for CPHD are still awaiting discovery and therefore the usage of efficient genomic tools (i.e., whole exome sequencing) will further broaden our knowledge regarding pituitary development and function.
Topics: Child; Cohort Studies; Female; Humans; Hypopituitarism; Immunoglobulins; Male; Mutation; Pedigree; Protein Conformation; Semaphorin-3A; Exome Sequencing
PubMed: 32612575
DOI: 10.3389/fendo.2020.00368 -
Journal of Neurological Surgery. Part... Jul 2021To evaluate the utilization of image guidance technology for pediatric transsphenoidal pituitary resection (TSPR) and analyze the complication rates, length of stay...
To evaluate the utilization of image guidance technology for pediatric transsphenoidal pituitary resection (TSPR) and analyze the complication rates, length of stay (LOS), and total cost for such surgeries as function of time and utilization of image guidance. The Healthcare Cost and Utilization Project Kids' Inpatient Database (KID) was queried for all cases of TSPR between 1997 and 2016. Factors extracted included patient demographics, use of image guidance, LOS, total cost, and complications, including panhypopituitarism, diabetes insipidus (DI), cerebrospinal fluid (CSF) rhinorrhea, and cranial nerve (CN) III, IV, and VI palsies. Multivariate logistic regression was utilized to determine the odds ratio of developing panhypopituitarism, DI, CSF rhinorrhea, and CN palsies for image-guided versus nonimage-guided cases. A generalized linear model was used to determine the effect of image guidance on inflation-adjusted total cost and LOS. A total of 1,297 cases of TSPR were included in the KID over this time period. The majority were female, Caucasian, and older than 15 years. Utilization of image guidance has rapidly increased since 2006. Complication rates were comparable, but when controlling for other factors, the use of image guidance showed a lower risk of postoperative DI ( = 0.05). The use of image guidance also resulted in a shorter LOS by 2.84 days ( < 0.001) with no associated increase in total cost ( = 0.663). The use of imaging guidance for pediatric TSPR has precipitously increased in recent years, as it is cost-effective, decreases LOS, and may lead to lower complication rates, such as DI.
PubMed: 34306916
DOI: 10.1055/s-0040-1701602 -
Insights Into Imaging Dec 2014Pituitary apoplexy (PA) is a rare and potentially fatal clinical condition presenting acute headache, vomiting, visual impairment, ophthalmoplegia, altered mental state...
Pituitary apoplexy (PA) is a rare and potentially fatal clinical condition presenting acute headache, vomiting, visual impairment, ophthalmoplegia, altered mental state and possible panhypopituitarism. It mostly occurs in patients with haemorrhagic infarction of the pituitary gland due to a pre-existing macroadenoma. Although there are pathological and physiological conditions that may share similar imaging characteristics, both clinical and imaging features can guide the radiologist towards the correct diagnosis, especially using magnetic resonance imaging (MRI). In this review, we will describe the main clinical and epidemiological features of PA, illustrating CT and MRI findings and discussing the role of imaging in the differential diagnosis, prognosis and follow-up. Teaching points • Headache, ophtalmoplegia and visual impairment are frequent symptoms of pituitary apoplexy. • CT is often the first imaging tool in PA, showing areas of hyperdensity within the sellar region. • MRI could confirm haemorrhage within the pituitary gland and compression on the optic chiasm. • Frequent simulating conditions are aneurysms, Rathke cleft cysts, craniopharingioma and mucocele. • The role of imaging is still debated and needs more studies.
PubMed: 25315035
DOI: 10.1007/s13244-014-0362-0 -
Endocrine Journal Jul 2023Lymphocytic hypophysitis (LYH) is a rare chronic inflammatory disease characterized by lymphocytic infiltration of the anterior or posterior pituitary gland and...
Lymphocytic hypophysitis (LYH) is a rare chronic inflammatory disease characterized by lymphocytic infiltration of the anterior or posterior pituitary gland and hypothalamus. LYH is subdivided into lymphocytic adenohypophysitis (LAH), lymphocytic infundibulo-neurohypophysitis (LINH), and lymphocytic panhypophysitis (LPH) depending on the primary site. Most cases occur in adults, with few cases reported in children, and it is especially important to distinguish LYH from suprasellar malignancies, such as germ cell tumors and other neoplastic diseases. Although a biopsy is necessary for definitive diagnosis, it is desirable to be able to diagnose the disease without biopsy if possible, especially in children, because of the surgical invasiveness of the procedure. Recently, serum anti-rabphilin-3A antibodies have attracted attention as diagnostic markers for LYH, especially in LINH, but there are only a few reports on pediatric patients. In the present study, we experienced two children with LPH and LAH, respectively, who tested positive for anti-rabphilin-3A antibodies. This is the first report of children with LYH other than LINH positive for anti-rabphilin-3A antibodies, and anti-rabphilin-3A antibodies may be a useful non-invasive diagnostic marker not only for LINH but also for LYH in general. We also discuss the sensitivity and specificity of anti-rabphilin-3A antibody testing in cases where histological diagnosis has been made.
Topics: Adult; Humans; Child; Autoimmune Hypophysitis; Hypopituitarism; Pituitary Diseases; Pituitary Gland, Posterior
PubMed: 37045780
DOI: 10.1507/endocrj.EJ22-0637