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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 -
Current Pharmaceutical Design 2021Gonadotropin-releasing hormone (GnRH) is the focus of the scientific debate for the treatment of hypogonadotropic hypogonadism. Sexual maturation and reproductive... (Review)
Review
Gonadotropin-releasing hormone (GnRH) is the focus of the scientific debate for the treatment of hypogonadotropic hypogonadism. Sexual maturation and reproductive function depend on the pulsatile secretion of GnRH that are mainly congenital and may or may not be associated with other genetic anomalies or syndromes. Clinical manifestations include a wide range of metabolic, endocrine, and psychologic dysfunctions. The following manuscript focuses on the effects of GnRH therapy on fertility and cognitive abilities, aiming to investigate the current level of evidence for this treatment regimen. Current literature has been reviewed with the aim of highlighting the key findings on these two aspects.
Topics: Fertility; Gonadotropin-Releasing Hormone; Humans; Hypogonadism; Syndrome
PubMed: 33238870
DOI: 10.2174/1381612826666201125113319 -
Clinical Neuropathology 2020Cystic sellar salivary gland-like lesions (CSSLs) are exceedingly rare, with fewer than a dozen case reports. They contain amorphous colloid identical to Rathke cleft...
INTRODUCTION
Cystic sellar salivary gland-like lesions (CSSLs) are exceedingly rare, with fewer than a dozen case reports. They contain amorphous colloid identical to Rathke cleft cyst contents, but the cyst wall additionally shows cohesive aggregates of benign salivary glands. We report three new examples.
MATERIALS AND METHODS
Two cases were seen at University of Colorado Denver and one at Memorial Sloan Kettering (MSK). Molecular testing was attempted on two of three.
RESULTS
Case 1 is a 20-year-old female who presented with panhypopituitarism and was found to have a suprasellar mass that proved to be a CSSL. She received no postoperative adjuvant therapy, but recurrence of headaches and blurred vision 2 years later prompted return to medical attention. A much smaller local cyst recurrence was now accompanied by a thickened, bulbous infundibular stalk. Second resection yielded a gliotic infundibular stalk and amorphous mucin, but no residual salivary-like glands. She is without further recurrence on 6-year follow-up. Case 2 is a 29-year-old female with headache; while seen initially at a tertiary care center, diagnosis was only made after consultation at MSK. Case 3 is 68-year-old female who had originally presented with apoplexy to an outside hospital 7 years prior to surgery and diagnosis. Molecular testing was uninformative on case 1 and negative for mutations or fusions on case 3.
CONCLUSION
Few pathologists or neuropathologists have encountered CSSLs in their practices; case 1 produced recurrence and significant infundibular stalk damage, and case 3 originally manifested apoplexy, features not previously reported.
Topics: Adult; Central Nervous System Cysts; Cysts; Female; Humans; Hypopituitarism; Magnetic Resonance Imaging; Neoplasm Recurrence, Local; Neurosurgical Procedures; Pituitary Gland; Salivary Glands; Young Adult
PubMed: 31845864
DOI: 10.5414/NP301235 -
Internal Medicine (Tokyo, Japan) Feb 2023A 59-year-old man suspected of having myocardial infarction with sinus bradycardia, a decreased blood pressure, and ST-change on an electrocardiogram was referred to our...
A 59-year-old man suspected of having myocardial infarction with sinus bradycardia, a decreased blood pressure, and ST-change on an electrocardiogram was referred to our hospital's emergency department. Emergent coronary angiography revealed no significant findings. However, the patient experienced shock and required intensive care. Curiosity rose when his urination volume was not disturbed; we suspected hormonal abnormalities. A hormonal examination and imaging analysis revealed panhypopituitarism caused by a Rathke's cyst. Appropriate hormonal replacement therapy improved his symptoms and led to normalization of his electrocardiogram findings. Acute coronary syndrome (ACS) is a fatal disease; however, clinicians must not discount panhypopituitarism, as it may mimic ACS symptoms.
Topics: Male; Humans; Middle Aged; Acute Coronary Syndrome; Hypopituitarism; Cysts; Emergency Service, Hospital
PubMed: 35705269
DOI: 10.2169/internalmedicine.0031-22 -
Orphanet Journal of Rare Diseases Mar 2022Craniopharyngioma (CP) and cranial fibrous dysplasia (CFD) are rare embryonic benign cranial diseases that most commonly present during childhood or adolescence. The... (Review)
Review
BACKGROUND
Craniopharyngioma (CP) and cranial fibrous dysplasia (CFD) are rare embryonic benign cranial diseases that most commonly present during childhood or adolescence. The coexistence of CP and CFD is extremely rare and has not yet been reported.
METHODS
We retrospectively reviewed the data of five patients with concomitant CP and CFD treated at Beijing Tiantan Hospital from January 2003 to January 2021 and summarized their clinicopathological features, treatment modalities, and outcomes. We also performed a comprehensive literature review, tested the patients for characteristic GNAS gene mutations related to CFD, and tested the CP specimens for corresponding Gsα protein to explore the potential connection leading to the coexistence of CP and CFD.
RESULTS
The cohort comprised four men and one woman (median age, 39 years). The symptoms mainly included headache, dizziness, fatigue, polyuria/polydipsia, hypogonadism, and blurred vision. CFD most commonly involved the sphenoid bone (n = 4). Four patients underwent surgery to remove the CP (one trans-sphenoidal and three transcranial resections); complete and subtotal resection were achieved in two patients, respectively. The tumor subtype was adamantinomatous in three patients and unknown in one. The common postoperative complications were panhypopituitarism, diabetes insipidus, and hypothyroidism. The mean follow-up duration was 57.2 months. Two patients required postoperative hormone replacement therapy. Three patients underwent genetic study of the tumor specimens; GNAS mutations were not detected, but these patients were positive for Gsα protein.
CONCLUSIONS
Although a definite causative relationship has not been proved, the coexistence of CP and CFD means that potential interplay or an atypical fibrous dysplasia course as uncommon manifestations of CP cannot be excluded. It is more challenging to initiate prompt diagnosis and appropriate treatment for concomitant CP and CFD than for solitary CP because of skull base deformations. Current management strategies are aimed at surgical treating the CP and regularly monitoring the CFD.
Topics: Adolescent; Adult; Craniopharyngioma; Female; Fibrous Dysplasia of Bone; Humans; Male; Pituitary Neoplasms; Retrospective Studies; Skull
PubMed: 35303908
DOI: 10.1186/s13023-022-02281-1 -
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 -
Journal of Mid-life Health 2022Lymphocytic hypophysitis (LYH) is a rare inflammatory disease in which lymphoplasmacytic infiltration of the pituitary gland can potentially lead to panhypopituitarism....
Lymphocytic hypophysitis (LYH) is a rare inflammatory disease in which lymphoplasmacytic infiltration of the pituitary gland can potentially lead to panhypopituitarism. This entity was first recognized in 1962 by Goudie and Pinkerton. We report the case of a 36-year-old nonpregnant female operated for a presumed nonsecreting pituitary adenoma. On intraoperative squash cytology and histology of excision biopsy confirmed the diagnosis of LYH. Review of the literature shows that most reported cases have occurred in women during pregnancy or during postpartum period. Many were accurately diagnosed only after biopsy or at necropsy. It is suspected to be an autoimmune endocrinopathy as concomitant lymphocytic infiltration of the thyroid and pituitary glands has been noted and antipituitary antibodies have been found in some instances. Clinically and radiologically, LYH may mimic a nonsecretory pituitary adenoma. Intraoperative diagnosis may prevent unnecessary excision of potentially functioning pituitary.
PubMed: 36950203
DOI: 10.4103/jmh.jmh_32_21 -
International Journal of Endocrinology 2019IgG4-related hypophysitis (IgG4-RH) is a rare disease, and its prevalence remains unclear. In recent years, an increasing number of cases have been reported because of... (Review)
Review
BACKGROUND
IgG4-related hypophysitis (IgG4-RH) is a rare disease, and its prevalence remains unclear. In recent years, an increasing number of cases have been reported because of the increasing recognition of this disease. We aimed to summarize case reports of IgG4-RH and outline the clinical features and outcomes.
METHODS
We performed PubMed search of articles using the search terms "hypophysitis [AND] IgG4." Consequently, only 54 English articles (76 cases) met Leporati's diagnostic criteria.
RESULTS
Of the 76 cases, the ratio of men to women was 1.5 : 1, and the age at diagnosis was 54.1 ± 17.8 years. The median IgG4 concentration was 405.0 mg/dl. Anterior hypopituitarism, isolated central diabetes insipidus, and panhypopituitarism were observed in 14 (18.4%), 12 (15.8%), and 44 (57.9%) cases, respectively. The sequence of anterior hormone deficiency was as follows: gonadotropin (68.4%), ACTH (63.2%), TSH (59.2%), GH (48.7%), and prolactin (42.1%). The median number of involved organs was 1.5, and the lung (18.4%), retroperitoneum (17.1%), kidney (15.8%), submandibular glands (14.5%), and pancreas (13.2%) were the common involved organs. Elevated IgG4 concentration and normal IgG4 level were in 42 (76.4%) and 13 (23.6%) cases, respectively. Patients with elevated serum IgG4 concentration were older (60.9 ± 14.3 vs 45.6 ± 17.4, =0.001) and male-prone (78.6% vs 40.4%, =0.003) and had a susceptibility of multiple organ involvement (78.6% vs 35.0%, =0.001) compared to those with normal serum IgG4 levels. Males were older at disease onset (61.5 ± 12.6 vs 42.9 ± 18.8, < 0.001) and had a higher IgG4 concentration (425.0 vs 152.5, =0.029) and a greater number of involved organs (2.0 vs 0.0, =0.001), while isolated hypophysitis was more prominent in female (63.3% vs 26.1%, =0.001).
CONCLUSION
In this review, we found that there were different characteristics between different genders. Patients with elevated serum IgG4 level in terms of some clinical features were also different from those with normal serum IgG4 level. However, the data in this review were limited by bias and confounding. Further clinical studies with larger sample sizes are warranted.
PubMed: 31929792
DOI: 10.1155/2019/5382640 -
Proceedings (Baylor University. Medical... 2022Panhypopituitarism is an extremely rare disorder in acute myeloid leukemia (AML). To our knowledge, only six cases have been reported. Of note, central diabetes...
Panhypopituitarism is an extremely rare disorder in acute myeloid leukemia (AML). To our knowledge, only six cases have been reported. Of note, central diabetes insipidus is known to be associated with AML in patients with certain cytogenic abnormalities, such as monosomy chromosome 7 and inv(3)(q21;q26). We describe a 30-year-old incarcerated woman with newly diagnosed AML who developed panhypopituitarism. Her cytogenetic studies revealed a normal karyotype, were negative for inv(3)(q21;q26), but were positive for FMS-like tyrosine kinase 3 internal tandem duplication.
PubMed: 36304602
DOI: 10.1080/08998280.2022.2093589