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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 -
Cureus Apr 2023Hypopituitarism, a rare disorder, is defined as decreased production and secretion of one or more of the hormones that are normally secreted by the pituitary gland,...
Hypopituitarism, a rare disorder, is defined as decreased production and secretion of one or more of the hormones that are normally secreted by the pituitary gland, resulting from the diseases of the pituitary gland itself or the hypothalamus. The clinical manifestations of this disorder are usually nonspecific and can lead to life-threatening complications and mortality. Here, we present a case of a 66-year-old female patient who was brought to the ER by her family with concerns of altered mentation. The altered mentation was found to be secondary to a severe hypoglycemic episode, which was later discovered to be due to underlying panhypopituitarism with secondary adrenal insufficiency. Endocrinology was consulted and recommended assessment of the hypothalamic-pituitary axis. The tests revealed low levels of serum insulin and C-peptide along with decreased levels of luteinizing hormone (LH), follicle-stimulating hormone (FSH), prolactin, cortisol, free thyroxine (T4), and adrenocorticotropic hormone (ACTH). She was started on intravenous hydrocortisone and levothyroxine, which were later switched to oral hydrocortisone and levothyroxine after the stabilization of her blood glucose levels. She was later advised to follow up with endocrinology upon discharge. While evaluating a patient with hypoglycemia, it is important to keep hypopituitarism causing secondary adrenal insufficiency in mind as a differential diagnosis because it can be life-threatening if not recognized early and treated in a timely manner.
PubMed: 37193443
DOI: 10.7759/cureus.37530 -
Journal of Neurological Surgery. Part... Jun 2023Endoscopic endonasal approaches (EEAs) have shown excellent results for majority of hypophyseal tumors. The aim of this study was to evaluate and report the...
Endoscopic endonasal approaches (EEAs) have shown excellent results for majority of hypophyseal tumors. The aim of this study was to evaluate and report the complications of EEA in patients with pituitary adenoma (PA) who underwent surgery between 2013 and 2018. We performed a retrospective review of 310 consecutive patients/325 procedures with PA treated with an EEA from May 2013 to January 2018. Minor complications including transient diabetes insipidus (DI) or new anterior pituitary hormone insufficiency in one axis and major complications including CSF leakage, hematoma needing reoperation, vascular damage, brain infection, new pan-hypopituitarism permanent DI, new visual impairment, neurological deficits, and mortality were recorded. We encountered 58 complications in 310 patients (18.7%) and 325 procedures (17.7%). Minor complications were 43 (13.9 and 13.2%) in 310 patients and in 325 procedures, respectively; whereas, major complications were 28 (9 and 8.6%, respectively). Total complications were associated with diameter group 2 (>30 mm), diaphragm sella violation, suprasellar extension, parasellar involvement, nonfunctional secretory type, and intraoperative arachnoid tearing. EEA can be considered as a safe surgical treatment which has acceptable complications in the management of PAs.
PubMed: 37187477
DOI: 10.1055/a-1838-5897 -
Endocrinology, Diabetes & Metabolism... May 2023An 11-year-old girl with past medical history of septic shock and multi-organ failure at age 5 presented to her primary care doctor with concern for pallor of the lips....
SUMMARY
An 11-year-old girl with past medical history of septic shock and multi-organ failure at age 5 presented to her primary care doctor with concern for pallor of the lips. Laboratory studies demonstrated low free thyroxine (T4) and normal thyroid-stimulating hormone (TSH). A referral to endocrinology was made where the patient was evaluated, and laboratory evaluation was repeated. The patient was asymptomatic and clinically euthyroid with a height consistent with her mid-parental height and was in mid- to late-puberty. The repeated laboratory evaluation demonstrated a pattern suggestive of primary hypothyroidism with low free T4 and an elevated TSH. However, the magnitude of elevation of TSH was less than expected, given the degree of lowering of free T4; therefore, central hypothyroidism was considered. Workup was initiated, and laboratory studies and MRI imaging confirmed an underlying diagnosis of panhypopituitarism in the setting of pituitary stalk interruption syndrome.
LEARNING POINTS
Pituitary stalk interruption syndrome is a rare but important cause of panhypopituitarism. Central hypothyroidism should be suspected in patients with low free thyroxine with an inappropriate degree of elevation of thyroid-stimulating hormone. Workup of central hypothyroidism should include multi-pituitary hormone assessment, and, if evident, MRI imaging should be done. Adrenal insufficiency should be suspected in a hypotensive, critically ill patient who is failing to improve on standard-of-care therapy.
PubMed: 37183887
DOI: 10.1530/EDM-23-0021 -
Journal of Neurosurgery. Case Lessons May 2023Cryptococcosis is the most common mycosis of the central nervous system. It may develop in immunocompetent and immunocompromised patients, the latter representing most...
BACKGROUND
Cryptococcosis is the most common mycosis of the central nervous system. It may develop in immunocompetent and immunocompromised patients, the latter representing most cases. The most common presentation of the disease is meningitis, whereas intra-axial lesions in the form of cryptococcoma are less frequent with a greater tendency to present in immunocompetent patients. The presentation of pituitary cryptococcoma is exceptional. To the best of the authors' knowledge, there is only one case published in the medical literature.
OBSERVATIONS
The authors present the case of a 30-year-old male without a relevant medical history. He was referred to our center with a pituitary mass on magnetic resonance imaging and panhypopituitarism. The patient underwent endonasal endoscopic transsphenoidal tumor resection, and a histopathological diagnosis of pituitary cryptococcoma was made. Medical management included fluconazole and intravenous amphotericin.
LESSONS
This case underscores the neurosurgical and medical management of an exceptional clinical presentation of pituitary cryptococcoma in an immunocompetent patient. To the best of the authors' knowledge, there is only one case published in the medical literature. This case provides an invaluable review of the clinical, imaging, and therapeutic considerations regarding this exceptional clinical entity.
PubMed: 37158394
DOI: 10.3171/CASE2372 -
Revue Medicale de Liege Apr 2023One of the difficult challenges in endocrinology is the etiological diagnosis of isolated thickened pituitary stalk (PS). We report the case of a woman in whom a...
One of the difficult challenges in endocrinology is the etiological diagnosis of isolated thickened pituitary stalk (PS). We report the case of a woman in whom a thickened PS was diagnosed following the onset of central diabetes insipidus revealed by polyuria-polydypsia syndrome of late pregnancy and postpartum. The pituitary exploration showed panhypopituitarism with disconnecting hyperprolactinemia. An etiological investigation for an inflammatory, granulomatous or tumour cause was carried out, but was negative. Postpartum lymphocytic hypophysitis was then retained. However, the course was puzzling with a control pituitary MRI showing disappearance of the PS thickening with paradoxical appearance of a supra-pituitary tumour, the biopsy of which concluded of being a Langerhansian histiocytosis. This paradoxical sequence is unusual and has not been reported before. It called into question the autoimmune lymphocytic origin of the thickened PS, initially considered, and raised the likelihood of a causal relationship between this PS thickening and Langerhansian histiocytosis.
Topics: Female; Humans; Pregnancy; Diabetes Insipidus; Pituitary Diseases; Pituitary Gland; Histiocytosis; Magnetic Resonance Imaging
PubMed: 37067833
DOI: No ID Found -
Endocrinology, Diabetes & Metabolism... Apr 2023We report a rare case of biopsy-proven isolated immunoglobulin G4 (IgG4)-related hypophysitis and Rathke's cleft cyst (RCC) presenting as panhypopituitarism. A...
SUMMARY
We report a rare case of biopsy-proven isolated immunoglobulin G4 (IgG4)-related hypophysitis and Rathke's cleft cyst (RCC) presenting as panhypopituitarism. A 54-year-old Caucasian female presented with symptoms of slurred speech, altered mental status, polyuria and polydipsia and was found to have panhypopituitarism. Brain MRI showed a suprasellar mass with suspected intralesional hemorrhage. She underwent trans-sphenoidal resection due to MRI evidence of compression of the optic chiasm and left optic nerve. Preoperatively, she was started on hydrocortisone, levothyroxine and desmopressin. Histopathology demonstrated a RCC with adjacent lymphoplasmacytic hypophysitis with numerous IgG4-immunoreactive plasma cells. Hydrocortisone was stopped at 10 months after confirming hypothalamic-pituitary-adrenal (HPA)-axis recovery and desmopressin was stopped at 1 year. There was recurrence of a cystic mass at 1 year follow-up. Over 4 years of follow-up, she continued to require levothyroxine, and the mass remained stable in size. In order to begin to understand how this case's unique histopathological presentation influences clinical presentation, pituitary imaging and prognosis, we present an accompanying literature review.
LEARNING POINTS
Isolated IgG4 hypophysitis and coexisting Rathke's cleft cyst is a rare condition, which presents a diagnostic challenge. Recognizing its characteristic features can assist with early recognition and initiation of therapy to promote optimal outcomes. Further studies investigating the mechanisms promoting co-occurrence of these entities and their effect on prognosis are needed.
PubMed: 37067235
DOI: 10.1530/EDM-22-0359 -
Cureus Mar 2023Symptoms of levothyroxine overdose may vary depending on age, metabolism, etc. There are no specific guidelines for treating levothyroxine poisoning. Here, we present...
Symptoms of levothyroxine overdose may vary depending on age, metabolism, etc. There are no specific guidelines for treating levothyroxine poisoning. Here, we present the case of a 69-year-old man with a history of panhypopituitarism, hypertension, and end-stage renal disease who attempted suicide by ingesting 60 tablets of 150 µg levothyroxine (9 mg). Upon presentation to the emergency room, he was asymptomatic despite the free thyroxine level above the range of the assay. During the hospital stay, he developed sinus tachycardia, which was controlled with propranolol. Mild elevations in liver enzymes were also noted. He received stress-dose steroids; hemodialysis was performed a day earlier, and cholestyramine was administered. Thyroid hormone levels started to improve by day seven and finally normalized in 20 days, after which the home dose of levothyroxine was resumed. The human body has several mechanisms to compensate for levothyroxine toxicity, including the conversion of excess levothyroxine to inactive reverse triiodothyronine, increased binding to thyroid-binding globulin, and hepatic metabolism. This case shows that it is possible to have no symptoms even with an overdose of up to 9 mg a day of levothyroxine. Signs and symptoms of levothyroxine toxicity may not appear for several days after ingestion, and, therefore, close observation preferably on a telemetry floor is recommended until the thyroid hormone levels start to decrease. Effective treatment options include beta-blockers preferably propranolol, early gastric lavage, cholestyramine, and glucocorticoids. While hemodialysis has a limited role, antithyroid drugs and activated charcoal are ineffective.
PubMed: 37065406
DOI: 10.7759/cureus.36172 -
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