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Cureus Aug 2023Sarcoidosis is an inflammatory condition that can impact multiple organs in the body such as the lungs, skin, eyes, and, occasionally, the central nervous system. When...
Sarcoidosis is an inflammatory condition that can impact multiple organs in the body such as the lungs, skin, eyes, and, occasionally, the central nervous system. When sarcoidosis affects the nervous system, it is referred to as neurosarcoidosis and is estimated to occur in approximately 5%-15% of sarcoid patients. When neurosarcoidosis affects the pituitary gland, it can result in panhypopituitarism, which can be life-threatening. A 35-year-old male with a known diagnosis of sarcoidosis by skin biopsies presented to the hospital with altered mental status, hypernatremia, hypotension, and hypothermia. He reported symptoms of polyuria and polydipsia for several weeks before admission. Laboratory workup revealed elevated serum sodium at 167 mmol/L, high serum osmolality at 381 mOsm/kg, and low urine osmolality at 381 mOsm/kg, consistent with diabetes insipidus. Anterior pituitary hormone profile workup revealed low 8 am serum cortisol (1.9 mcg/dL) and inappropriately normal adrenocorticotropic hormone (ACTH) (34 pg/ml), low serum free testosterone (<2.5 ng/dL), low luteinizing hormone (0.7 mIU/ml), low follicular stimulating hormone (< 2.6 mIU/ml), low free T4 at 0.4 ng/dL. and inappropriately normal thyroid-stimulating hormone (TSH) at 2.77 uIU/mL. Serum prolactin was mildly elevated at 86.8 ng/mL. Angiotensin-converting enzyme level was within the normal range at 33 U/L. A diagnosis of panhypopituitarism was made. Brain MRI revealed a 3 cm mass in the suprasellar region involving the hypothalamus and bilateral optic tracts with a mass effect on the anterior third ventricle. No discrete pituitary or stalk lesion was identified. A ventriculostomy tube was placed for developing hydrocephalus. A biopsy of the suprasellar mass revealed non-caseating granuloma, confirming neurosarcoidosis. Treatment was initiated with high-dose IV corticosteroids to manage secondary adrenal insufficiency and neurosarcoidosis. He was also started on IV desmopressin and IV levothyroxine to manage his diabetes insipidus and central hypothyroidism. He was transitioned to oral therapy upon discharge. Panhypopituitarism secondary to neurosarcoidosis is a rare presentation that can occur due to the infiltration of the pituitary gland or the infiltration of the hypothalamus affecting the hypothalamic-pituitary axis. Neurosarcoidosis should be considered a differential when evaluating patients with symptoms consistent with panhypopituitarism. Prompt diagnosis and initiation of corticosteroids and deficient hormones can be lifesaving.
PubMed: 37692696
DOI: 10.7759/cureus.43169 -
Child's Nervous System : ChNS :... Oct 2023In spite of the continuous progresses in pediatric neurosurgery, adamantinomatous craniopharyngioma (AC) remains a challenging tumor due to its proximity to optic... (Review)
Review
BACKGROUND
In spite of the continuous progresses in pediatric neurosurgery, adamantinomatous craniopharyngioma (AC) remains a challenging tumor due to its proximity to optic pathways, pituitary gland, hypothalamus, and Willis' circle, which can result in significant endocrine, cognitive, and neurological morbidity after treatment with subsequent impact on the patient's quality of life (QoL). The relevance that QoL has today explains the changes in the management of AC observed over the time. The goal of the present article is to provide a historical background, to show the milestones in the changes of the AC treatment, and to analyze the current main options to manage such a challenging tumor.
MATERIAL AND METHODS
The pertinent literature has been reviewed. Moreover, a comparison between the past and recent personal series is reported.
RESULTS
Three main eras have been identified. The first (named Cushing era) was characterized by the need to realize a harmless surgery and to define the best way to approach AC; the second (microscope era) was characterized by a tremendous technical and technological development, with remarkable results in term of safe tumor resection and control but relatively poor QoL outcomes; and the third one (current period) is characterized by an increasing integration between surgery and adjuvant treatments, with relatively minor tumor control but significant improvement of QoL (comparable overall survival). The authors' experience reflects these changes. Two groups of children were compared: 52 cases (mean follow-up: 17.5 years) belong to the historical series (group 1, 1985-2003, aggressive surgical management) and 41 (mean follow-up: 8.5 years) to the current one (Group 2, 2004-2021, integrated management). No significant differences between the two groups were detected about recurrence rate, surgical mortality, and overall survival. However, Group 2 showed significant lower rates of postoperative panhypopituitarism, obesity, and visual deterioration.
CONCLUSIONS
Radical surgery allows for a good AC control with a low rate of recurrence but high risk of permanent morbidity. Despite the greater number of recurrences and surgeries, the more conservative policy, based on a combination of treatments, seems to provide the same tumor control with a better QoL. The advances in trans-nasal and trans-ventricular endoscopy, in proton therapy and in the management of the AC cyst are the main factors that allowed such an improvement.
Topics: Child; Humans; Craniopharyngioma; Quality of Life; Treatment Outcome; Pituitary Neoplasms; Retrospective Studies
PubMed: 37728836
DOI: 10.1007/s00381-023-06143-4 -
World Neurosurgery Jan 2024A 64-year-old man presented with an 8-year history of decreased libido, impotence, and blurred vision. The neurologic examination revealed a mild left facial weakness,...
A 64-year-old man presented with an 8-year history of decreased libido, impotence, and blurred vision. The neurologic examination revealed a mild left facial weakness, visual acuity of (20/60), and right homonymous hemianopia. Laboratory investigation of serum prolactin was 7896 ng/mL. Testosterone, free T4, and adrenocorticotropic hormone were all decreased. Brain magnetic resonance imaging showed a giant sellar/suprasellar lesion, compressing on the brainstem and extending to the cerebellopontine angle. A diagnosis of panhypopituitarism secondary to a giant macroprolactinoma was made. The patient was started on hormonal replacement therapy and underwent craniotomy and tumor resection. The histopathologic findings were compatible with prolactinoma. Invasive giant prolactinomas are defined as 1) tumor size of >4 cm in diameter; 2) serum prolactin of >1000 ng/mL; and 3) mass effect or hyperprolactinemia-induced symptomatology. The management of invasive giant prolactinoma commonly comprises a multimodal approach of both medical treatment and surgical intervention.
Topics: Male; Humans; Middle Aged; Prolactinoma; Pituitary Neoplasms; Prolactin; Hyperprolactinemia; Hypopituitarism; Magnetic Resonance Imaging
PubMed: 37827431
DOI: 10.1016/j.wneu.2023.10.025 -
Brain Tumor Research and Treatment Jul 2023The World Health Organization (WHO) updated the classification of pituitary tumors in 2022. The new classification presents detailed histological subtyping of a... (Review)
Review
The World Health Organization (WHO) updated the classification of pituitary tumors in 2022. The new classification presents detailed histological subtyping of a pituitary neuroendocrine tumor (PitNET) based on the tumor cell lineage, cell type, and related characteristics. The immunohistochemistry for pituitary transcription factors (PIT1, TPIT, SF1, GATA3, and ERα) is routinely needed in this classification. The controversy regarding the change of behavior code of all PitNET/pituitary adenoma from "0" for benign tumors to "3" for primary malignant tumors is a topic of debate among experts, nowadays. Some authors represent that pituitary adenoma has a tendency for hemorrhage and necrosis and frequent invasion of the cavernous sinus. However, most small PitNET/pituitary adenoma do not need any treatment because of benign biologic behavior or less than 5% recurrence after gross total removal. Pituitary apoplexy is also benign nature but has a tendency of cranial nerve compression or panhypopituitarism. Most of cavernous invasion is compression of the cavernous sinus. Aggressive PitNET/pituitary adenoma with malignant biological behavior is less than 1%.
PubMed: 37550816
DOI: 10.14791/btrt.2023.0015 -
Reviews in Endocrine & Metabolic... Jun 2024Women with hypopituitarism have lower fertility rates and worse pregnancy outcomes than women with normal pituitary function. These disparities exist despite the use of... (Review)
Review
Women with hypopituitarism have lower fertility rates and worse pregnancy outcomes than women with normal pituitary function. These disparities exist despite the use of assisted reproductive technologies and hormone replacement. In women with hypogonadotropic hypogonadism, administration of exogenous gonadotropins can be used to successfully induce ovulation. Growth hormone replacement in the setting of growth hormone deficiency has been suggested to potentiate reproductive function, but its routine use in hypopituitary women remains unclear and warrants further study. In this review, we will discuss the clinical approach to fertility in a woman with hypopituitarism.
Topics: Humans; Hypopituitarism; Female; Pregnancy; Hormone Replacement Therapy; Fertility; Infertility, Female
PubMed: 38095806
DOI: 10.1007/s11154-023-09863-9 -
Reviews in Endocrine & Metabolic... Oct 2023Prolactin (PRL) is secreted by the lactotroph cells in the anterior pituitary gland which is under inhibitory control of dopamine. The mature human PRL has more than 300... (Review)
Review
Prolactin (PRL) is secreted by the lactotroph cells in the anterior pituitary gland which is under inhibitory control of dopamine. The mature human PRL has more than 300 physiological actions including lactation, reproduction, homeostasis, neuroprotection, behavior, water and electrolyte balance, immunoregulation and embryonic and fetal development. PRL is involved in the growth and development of mammary gland, preparation of the breast for lactation in the postpartum period, synthesis of milk, and maintenance of milk secretion. Abnormalities in the synthesis and secretion of PRL may result in hyperprolactinemia or hypoprolactinemia. Although hyperprolactinemia has been extensively investigated in the literature, because of the subtle or unclearly defined symptoms, hypoprolactinemia is a less-known and neglected disorder. Failure of lactation is a well-known clinical manifestation of hypoprolactinemia. Recent studies reveal that hypoprolactinemia may have some effects beyond lactation such as increased risk for metabolic abnormalities including insulin resistance, abnormal lipid profile, obesity and sexual dysfunction. Very low level of PRL is suggested to be avoided in patients receiving dopamin agonist treatment to prevent unwanted effects of hypoprolactinemia. Another important point is that hypoprolactinemia is not included in the classification of hypopituitarism. Anterior pituitary failure is traditionally classified as isolated, partial and complete (panhypopituitarism) hypopituitarism regardless of prolactin level. Therefore, there are two kinds of panhypopituitarism: panhypopituitarism with normal or high PRL level and panhypopituitarism with low PRL level. In this review, we present two personal cases, discuss the diagnosis of hypoprolactinemia, hypoprolactinemia associated clinical picture and suggest to redefine the classification of hypopituitarism.
PubMed: 37875774
DOI: 10.1007/s11154-023-09847-9 -
British Journal of Neurosurgery Jun 2024We describe a rare case of histopathologic-proven necrotizing infundibulo-hypophysitis (NIH). (Review)
Review
PURPOSE
We describe a rare case of histopathologic-proven necrotizing infundibulo-hypophysitis (NIH).
CLINICAL HISTORY
A 40-year-old female presented with coexistence of central diabetes insipidus and hypopituitarism. Imaging disclosed a thickened infundibulum and a diffusely enlarged pituitary mass with gadolinium rim enhancement pattern. Microsurgical endonasal transsphenoidal resection was performed. The presence of extensive liquefactive necrosis, surrounded by lymphoplasmocytic inflammatory infiltrate, allowed for the diagnosis of NIH. Follow-up cranial imaging 10 months after surgery showed no evidence of reappearance of the lesion. There was no progression to panhypopituitarism.
CONCLUSION
Surgery and histopathological confirmation are the key diagnostic feature in NIH. The current case is the fifth report of NIH and the first one with an indolent course and without progression to panhypopituitarism so far.
Topics: Humans; Female; Adult; Hypopituitarism; Necrosis; Hypophysitis; Magnetic Resonance Imaging; Diabetes Insipidus, Neurogenic
PubMed: 34148487
DOI: 10.1080/02688697.2021.1940857 -
IScience Nov 2023-GlcNAcylation is a key post-translational modification, playing a vital role in cell signaling during development, especially in the brain. In this study, we...
-GlcNAcylation is a key post-translational modification, playing a vital role in cell signaling during development, especially in the brain. In this study, we investigated the role of -GlcNAcylation in regulating the homeobox protein OTX2, which contributes to various brain disorders, such as combined pituitary hormone deficiency, retinopathy, and medulloblastoma. Our research demonstrated that, under normal physiological conditions, the proteasome plays a pivotal role in breaking down endogenous OTX2. However, when the levels of OTX2 rise, it forms oligomers and/or aggregates that require macroautophagy for clearance. Intriguingly, we demonstrated that -GlcNAcylation enhances the solubility of OTX2, thereby limiting the formation of these aggregates. Additionally, we unveiled an interaction between OTX2 and the chaperone protein CCT5 at the -GlcNAc sites, suggesting a potential collaborative role in preventing OTX2 aggregation. Finally, our study demonstrated that while OTX2 physiologically promotes cell proliferation, an -GlcNAc-depleted OTX2 is detrimental to cancer cells.
PubMed: 38026167
DOI: 10.1016/j.isci.2023.108184 -
Neuro-oncology Dec 2023Childhood craniopharyngioma (cCP) has excellent survival, but quality of life may be severely hampered by hypothalamic dysfunction. We aimed to evaluate treatment and...
BACKGROUND
Childhood craniopharyngioma (cCP) has excellent survival, but quality of life may be severely hampered by hypothalamic dysfunction. We aimed to evaluate treatment and hypothalamic outcomes of a Dutch cCP cohort, and evaluate the effect of centralization of care.
METHODS
A retrospective cohort study was performed, including cCP patients diagnosed between 2004 and 2021. Treatment characteristics and hypothalamic outcomes were evaluated and compared before and since centralization of care in May 2018.
RESULTS
We included 87 cCP patients. Cyst drainage/fenestration was performed in 29.9%, limited resection in 27.6%, near-total resection in 16.1%, and gross total resection (GTR) in 25.4%. Radiotherapy was given in 46.0%. After a median follow-up of 6.5 years, hypothalamic obesity (HO) was present in 24.7% and panhypopituitarism with diabetes insipidus in 71.3%. Higher body mass index (BMI) SDS at diagnosis and Muller grade II at last magnetic resonance imaging of follow-up were associated with overweight/obesity. No association was found between extensiveness of resection and overweight/obesity at last follow-up. When comparing before and after centralization of care, rates of GTR remained similar, but BMI outcomes changed; mean ΔBMI SDS 1 year after diagnosis from 1.12 (SD 1.15) to 0.81 (SD 1.24), and HO after 1 year decreased from 33.3% to 12.0% (P = .067), and after 2 years from 28.6% to 6.7% (P = NS).
CONCLUSIONS
In our nationwide cohort, GTR was performed in a relatively low percentage of patients and extensiveness of resection was no longer associated with HO at follow-up. A trend toward improvement of BMI is observed since centralization of care, which needs further exploration.
Topics: Humans; Child; Craniopharyngioma; Cohort Studies; Retrospective Studies; Overweight; Quality of Life; Pituitary Neoplasms; Obesity; Treatment Outcome
PubMed: 37381692
DOI: 10.1093/neuonc/noad112