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Endocrinology, Diabetes & Metabolism... May 2023Neonatal hypoglycemia is a serious condition that can have a major impact on the growing neonatal brain. The differential diagnosis of neonatal hypoglycemia is broad and...
SUMMARY
Neonatal hypoglycemia is a serious condition that can have a major impact on the growing neonatal brain. The differential diagnosis of neonatal hypoglycemia is broad and includes hyperinsulinism as well as panhypopituitarism. The FOXA2 gene has been involved in the development of the pancreas as well as the pituitary gland. Six cases have been reported thus far with FOXA2 mutations presenting with variable degrees of hypopituitarism, and only two patients had permanent hyperinsulinism; other cases have been reported with microdeletions in 20p11, the location that encompasses FOXA2, and those patients presented with a wider phenotype. A full-term female infant presented with severe hypoglycemia. Critical sampling showed an insulin of 1 mIU/mL, suppressed beta-hydroxybutyric acids, and suppressed free fatty acids. Blood glucose responded to glucagon administration. Growth hormone (GH) stimulation test later showed undetectable GH in all samples, and cortisol failed to respond appropriately to stimulation. Gonadotropins were undetectable at 1 month of life, and MRI showed ectopic posterior pituitary, interrupted stalk, hypoplastic anterior pituitary, cavum septum pellucidum, and diminutive appearance of optic nerves. Whole-exome sequencing revealed a likely pathogenic de novo c.604 T>C, p.Tyr202His FOXA2 mutation. We expand the known phenotype on FOXA2 mutations and report a likely pathogenic, novel mutation associated with hyperinsulinism and panhypopituitarism.
LEARNING POINTS
FOXA2 has been shown to play an important role in the neuroectodermal and endodermal development. FOXA2 mutation may lead to the rare combination of hyperinsulinism and panhypopituitarism. Patients reported so far all responded well to diazoxide. Dysmorphology may be subtle, and liver functions should be monitored.
PubMed: 37219505
DOI: 10.1530/EDM-22-0355 -
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 -
Hormones (Athens, Greece) Dec 2021Pituicytoma is a rare tumor of the pituitary gland derived from neurohypophyseal pituicytes. CASE 1: A 58-year-old female presented with decreased vision; she was... (Review)
Review
INTRODUCTION
Pituicytoma is a rare tumor of the pituitary gland derived from neurohypophyseal pituicytes. CASE 1: A 58-year-old female presented with decreased vision; she was admitted to the neurosurgery department of Ege University after the detection of a pituitary macroadenoma. Magnetic resonance imaging (MRI) showed a 28 * 18 * 17-mm suprasellar mass, and laboratory tests revealed hypopituitarism. Hydrocortisone and L-thyroxine treatment were initiated, and the patient underwent resection through the endoscopic endonasal approach (EEA). The histopathological examination revealed a pituicytoma. The recurrence of tumor was detected during the 1-year follow-up, and the patient is awaiting surgery. CASE 2: A 70-year-old woman presented with visual changes; she had a past medical history of hypophyseal macroadenoma and pituicytoma resected through an EEA in 2012 and 2017, respectively. During follow-up, 2 years after the second surgery, MRI showed progression of the pituicytoma then measuring 38 × 23 × 22 mm; it had invaded the cavernous sinus and was causing hydrocephaly and panhypopituitarism. The patient underwent the third resection through the transcranial approach in order to minimize bleeding. After this surgery, the patient developed diabetes insipidus and underwent treatment with desmopressin. Histopathological examination revealed a pituicytoma. At 6-month follow-up, imaging showed a sellar suprasellar mass 37 × 22 × 24 mm invading the cavernous sinus, indicative of recurrence. In the postoperative period, the patient applied to the department of radiation oncology to have fractionated radiotherapy.
DISCUSSION
Pituicytomas are known to be low-grade tumors; because of their rarity, they are a real challenge. These patients should be followed up closely.
Topics: Aged; Female; Glioma; Humans; Magnetic Resonance Imaging; Middle Aged; Pituitary Gland; Pituitary Neoplasms
PubMed: 34390481
DOI: 10.1007/s42000-021-00301-6 -
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 -
The Journal of Clinical Endocrinology... Apr 2023Hypothalamic obesity (HO) is defined as abnormal weight gain due to physical destruction of the hypothalamus. Suprasellar tumors, most commonly craniopharyngiomas, are a...
Hypothalamic obesity (HO) is defined as abnormal weight gain due to physical destruction of the hypothalamus. Suprasellar tumors, most commonly craniopharyngiomas, are a classic cause of HO. HO often goes unnoticed initially as patients, families, and medical teams are focused on oncologic treatments and management of panhypopituitarism. HO is characterized by rapid weight gain in the first year after hypothalamic destruction followed by refractory obesity due to an energy imbalance of decreased energy expenditure without decreased food intake. Currently available pharmacotherapies are less effective in HO than in common obesity. While not a cure, dietary interventions, pharmacotherapy, and bariatric surgery can mitigate the effects of HO. Early recognition of HO is necessary to give an opportunity to intervene before substantial weight gain occurs. Our goal for this article is to review the pathophysiology of HO and to discuss available treatment options and future directions for prevention and treatment.
Topics: Humans; Pituitary Neoplasms; Hypothalamic Diseases; Craniopharyngioma; Obesity; Weight Gain
PubMed: 36413492
DOI: 10.1210/clinem/dgac678 -
Frontiers in Endocrinology 2022Heterozygous variants in cause MIRAGE syndrome, a complex multisystem disorder involving Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital...
BACKGROUND
Heterozygous variants in cause MIRAGE syndrome, a complex multisystem disorder involving Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital phenotypes, and Enteropathy. The range of additional clinical associations is expanding and includes disrupted placental development, poor post-natal growth and endocrine features. Increasingly, milder phenotypic features such as hypospadias in small for gestational age (SGA) boys and normal adrenal function are reported. Some children present with isolated myelodysplastic syndrome (MDS/monosomy 7) without MIRAGE features.
OBJECTIVE
We aimed to investigate: 1) the range of reported variants, clinical features, and possible genotype-phenotype correlations; 2) whether SAMD9 disruption affects placental function and leads to pregnancy loss/recurrent miscarriage (RM); 3) and if pathogenic variants are associated with isolated fetal growth restriction (FGR).
METHODS
Published data were analyzed, particularly reviewing position/type of variant, pregnancy, growth data, and associated endocrine features. Genetic analysis of was performed in products of conception (POC, n=26), RM couples, (couples n=48; individuals n=96), children with FGR (n=44), SGA (n=20), and clinical Silver-Russell Syndrome (SRS, n=8), (total n=194).
RESULTS
To date, variants are reported in 116 individuals [MDS/monosomy 7, 64 (55.2%); MIRAGE, 52 (44.8%)]. Children with MIRAGE features are increasingly reported without an adrenal phenotype (11/52, 21.2%). Infants without adrenal dysfunction were heavier at birth (median 1515 g versus 1020 g; P < 0.05) and born later (median 34.5 weeks versus 31.0; P < 0.05) compared to those with adrenal insufficiency. In MIRAGE patients, hypospadias is a common feature. Additional endocrinopathies include hypothyroidism, hypo- and hyper-glycemia, short stature and panhypopituitarism. Despite this increasing range of phenotypes, genetic analysis did not reveal any likely pathogenic variants/enrichment of specific variants in in the pregnancy loss/growth restriction cohorts studied.
CONCLUSION
MIRAGE syndrome is more phenotypically diverse than originally reported and includes growth restriction and multisystem features, but without adrenal insufficiency. Endocrinopathies might be overlooked or develop gradually, and may be underreported. As clinical features including FGR, severe infections, anemia and lung problems can be non-specific and are often seen in neonatal medicine, SAMD9-associated conditions may be underdiagnosed. Reaching a specific diagnosis of MIRAGE syndrome is critical for personalized management.
Topics: Adrenal Insufficiency; Chromosome Deletion; Chromosomes, Human, Pair 7; Female; Fetal Growth Retardation; Humans; Hypospadias; Intracellular Signaling Peptides and Proteins; Male; Myelodysplastic Syndromes; Phenotype; Placenta; Pregnancy; Syndrome
PubMed: 36060959
DOI: 10.3389/fendo.2022.953707 -
Anticancer Research Sep 2022Craniopharyngiomas involving the ventricular system are rare but pose significant surgical challenges. We systematically reviewed the literature on craniopharyngiomas... (Review)
Review
BACKGROUND/AIM
Craniopharyngiomas involving the ventricular system are rare but pose significant surgical challenges. We systematically reviewed the literature on craniopharyngiomas invading the ventricles (CP-V).
MATERIALS AND METHODS
PubMed, EMBASE, Scopus, Web of Science, and Cochrane were searched to include studies reporting clinical data of patients with CP-Vs. Clinico-radiological features, management, and treatment outcomes were analyzed.
RESULTS
We included 73 studies encompassing 407 patients. Patients were mostly male (61.5%), presenting with headache (57.9%) and/or endocrine disorders (52.1%). CP-Vs mostly involved the third ventricle (96.3%), followed by the lateral ventricles (2.9%), and the fourth ventricle (1%). Tumors had cystic components in 59% of cases and were mostly adamantinomatous (70.8%). Open resection was performed in 232 cases (57%), mostly with trans-lamina terminalis (36.6%) and trans-callosal (31.9%) approaches. Endoscopic resection was performed in 169 cases (41.5%), mostly with trans-sphenoidal (74.6%) and transventricular (24.9%) approaches. Gross-total tumor resection was obtained in most cases (62.9%). Adjuvant radiotherapy was delivered in 22.8% cases. A total of 178 patients experienced persistent complications, mostly including diabetes insipidus (47.1%) and panhypopituitarism (12.7%), not significantly different after open versus endoscopic resection (p=0.117). Symptom improvement was obtained in 88% of cases. CP-Vs recurrences were reported in 94 patients (23.1%), with median progression-free survival of 13.5 months (range=0.5-252.0 months). Fifty-nine patients died (14.5%), with median overall survival of 32.0 months (range=0.5-252.0 months), significantly longer after endoscopic resection than open resection (p=0.019).
CONCLUSION
CP-Vs are uncommon and challenging entities. Surgical resection is feasible, but patient-tailored selection of open/endoscopic approaches is necessary to achieve optimal outcomes and minimize complication risks.
Topics: Craniopharyngioma; Female; Humans; Hypopituitarism; Male; Pituitary Neoplasms; Retrospective Studies; Treatment Outcome
PubMed: 36039438
DOI: 10.21873/anticanres.15919 -
Acta Otorhinolaryngologica Italica :... Apr 2021The endoscopic endonasal transsphenoidal approach to the sella and parasellar regions is now increasingly used for removal of a variety of lesions localized in the...
INTRODUCTION
The endoscopic endonasal transsphenoidal approach to the sella and parasellar regions is now increasingly used for removal of a variety of lesions localized in the ventral skull base. The advantage of the endoscope is enhanced visualization and improved panoramic view that can result in more complete removal of the tumor. An extensive knowledge of the anatomy is mandatory to approach this region.
MATERIALS AND METHODS
From February 2009 to March 2020, the endoscopic endonasal approach was used in 153 patients with sellar and parasellar lesions, at our Institution: 136 pituitary adenomas, 7 craniopharyngiomas, 3 Rathke's cysts, a tuberculum sellae meningioma, an aneurysm of the internal carotid artery (ICA), a clivus chordoma, a papillary glioneuronal tumor, an histiocytosis, a pituitary metastasis from breast cancer and a chondrosarcoma.
RESULTS
The most common surgical complications were cerebral spinal fluid leak (9), bleeding (2), pituitary abscess (2). Among endocrinological complications, the most important were diabete insipidus (23) and panhypopituitarism (3). Two patients complicated with meningitis. There were no visual worsening and no operative mortality. We had persistence of disease in 20 cases. Twelve patients underwent surgical revision for recurrence of the disease.
CONCLUSIONS
Pre-operative planning and collaboration with several specialists are necessary in order to offer the patient the best treatment, minimizing complications.
Topics: Craniopharyngioma; Humans; Meningeal Neoplasms; Meningioma; Neoplasm Recurrence, Local; Pituitary Neoplasms; Retrospective Studies
PubMed: 34060518
DOI: 10.14639/0392-100X-suppl.1-41-2021-03 -
Annals of African Medicine 2021While hypopituitarism is known to be associated with increased cardiovascular morbidity and mortality, panhypopituitarism as a complication of myocardial infarction (MI)...
While hypopituitarism is known to be associated with increased cardiovascular morbidity and mortality, panhypopituitarism as a complication of myocardial infarction (MI) is very rare. Here, we report a case of rapidly developing empty sella syndrome with florid manifestations of panhypopituitarism after MI (due to critical stenosis in the left anterior descending artery) complicated by cardiogenic shock in a 65-year-old man. The patient was initially stabilized with conservative management of non-ST-elevated MI and cardiogenic shock, but after initial improvement, he again deteriorated with refractory shock (not adequately responding to vasopressors), seizures, hypoglycemia, hyponatremia, hyperkalemia, and metabolic acidosis. After ruling out recurrent cardiogenic shock or other causes of refractory hypotension, panhypopituitarism was diagnosed with the help of hormonal assays and imaging. With no prior evidence of hypopituitarism, we suspect that panhypopituitarism developed due to acute pituitary apoplexy secondary to initial cardiogenic shock. The patient was successfully survived by the emergency endocrine management followed by secondary coronary angioplasty.
Topics: Aged; Heart Failure; Humans; Hypopituitarism; Male; Myocardial Infarction
PubMed: 34213484
DOI: 10.4103/aam.aam_66_19