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Internal Medicine (Tokyo, Japan) Mar 2024A 59-year-old man was admitted to our hospital with hyponatremia. An endocrine examination indicated panhypopituitarism, and magnetic resonance imaging revealed a...
A 59-year-old man was admitted to our hospital with hyponatremia. An endocrine examination indicated panhypopituitarism, and magnetic resonance imaging revealed a mass-like lesion in the pituitary gland. Sinus endoscopy revealed a fungal mass in the sphenoid sinus, and the patient was diagnosed with hypopituitarism due to aspergillosis of the central nervous system (CNS). The patient's hyponatremia resolved with hydrocortisone replacement. Although the right internal carotid artery was eventually occluded, antifungal medications were administered for the aspergillosis, and the patient's general condition improved. The patient's CNS lesions have remained under control since discharge. This is the first case to suggest that ACTH secretion may be relatively preserved in Aspergillus-induced hypopituitarism.
PubMed: 38462513
DOI: 10.2169/internalmedicine.3390-23 -
Endocrine Journal May 2024Central congenital hypothyroidism (CH) can occur as an isolated deficiency or as part of combined pituitary hormone deficiency. Unlike primary CH, central CH cannot be...
Central congenital hypothyroidism (CH) can occur as an isolated deficiency or as part of combined pituitary hormone deficiency. Unlike primary CH, central CH cannot be detected by newborn screening (NBS) using dry filter paper blood TSH levels, and early diagnosis remains challenging. In this study, the clinical and genetic backgrounds of patients with isolated central CH were determined through a questionnaire-based survey among members of the Japanese Society for Pediatric Endocrinology. The known causes of isolated central CH were studied in 14 patients, including six with previously reported patient data. The results revealed IGSF1 and TBL1X pathogenic variants in nine and one patient, respectively. All six patients with low free thyroxine (FT4) levels detected in NBS carried IGSF1 pathogenic variants. Five patients with isolated central CH diagnosed after 3 months of age were variant-negative, except for one female patient with a heterozygous IGSF1 variant. Two of the four variant-negative patients and a variant-positive patient were diagnosed with pituitary hypoplasia. One and two patients with IGSF1 variant had obesity and intellectual disability, respectively. Left amblyopia was identified in the patient with a TBL1X variant. The study revalidated that IGSF1 variants comprise the most frequent pathogenic variant in patients with isolated central CH in Japan. The neonatal period is the optimal time for the diagnosis of central CH, particularly IGSF1 abnormalities, and the introduction of T4 screening should be considered in the future, taking cost-effectiveness into consideration.
Topics: Humans; Congenital Hypothyroidism; Female; Japan; Male; Infant, Newborn; Neonatal Screening; Infant; Membrane Proteins; Child, Preschool; Child; Immunoglobulins; Mutation; Transducin
PubMed: 38462462
DOI: 10.1507/endocrj.EJ23-0391 -
Frontiers in Pediatrics 2024We encountered a pediatric case of pulmonary hypertension triggered by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. A 14-year-old girl was...
We encountered a pediatric case of pulmonary hypertension triggered by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. A 14-year-old girl was brought to the emergency department of our hospital with fever, respiratory distress, and impaired consciousness. She tested positive for SARS-CoV-2 upon a polymerase chain reaction examination and had prolonged hypoxemia without pneumonia. An echocardiography revealed elevated right ventricular pressure. She was diagnosed with pilocytic astrocytoma at the age of 10 years and underwent a resection of a pituitary tumor. Hormone replacement therapy was administered postoperatively, but her growth hormones were not activated because of concerns about tumor recurrence. Echocardiography at the age of 13 years showed normal right ventricular pressure. On admission, she had an abnormal liver function, elevated liver fibrosis markers, a decreased platelet count, and hepatosplenomegaly, suggesting pulmonary and portal hypertension. The diagnosis was pulmonary hypertension associated with SARS-CoV-2 infection. The mechanism of the pulmonary hypertension was thought to be portal hypertension owing to growth hormone deficiency and SARS-CoV-2 infection. The patient's symptoms improved with oxygenation and bed rest without additional targeted pulmonary hypertension therapy, and her right ventricular pressure decreased. This case demonstrates that a pediatric patient with subclinical pulmonary hypertension may develop pulmonary hypertension triggered by SARS-CoV-2 infection.
PubMed: 38390278
DOI: 10.3389/fped.2024.1336589 -
Clinical Case Reports Feb 2024Sheehan's syndrome may present with postpartum lactation failure and amenorrhea or with features of isolated hypopituitarism to panhypopituitarism. A high index of...
Sheehan's syndrome may present with postpartum lactation failure and amenorrhea or with features of isolated hypopituitarism to panhypopituitarism. A high index of suspicion is required in a relevant clinical setting of postpartum hemorrhage.
PubMed: 38344342
DOI: 10.1002/ccr3.8521 -
BMC Endocrine Disorders Feb 2024Lymphocytic hypophysitis is a rare autoimmune condition that usually presents during pregnancy and causes inflammation of the pituitary gland. Although the...
BACKGROUND
Lymphocytic hypophysitis is a rare autoimmune condition that usually presents during pregnancy and causes inflammation of the pituitary gland. Although the pathophysiology is not well understood, it often presents with headaches, visual disturbances, and symptoms of hypopituitarism. However, not all cases may present with hypopituitarism which can make this rare disease with an incidence of ~ 1 in 9 million much more difficult to diagnose.
CASE PRESENTATION
We present a 35-year-old G4P4 woman with progressive vision loss and intermittent frontal headaches during her first trimester through 2 months postpartum. She presented with no symptoms of hypopituitarism and her hormone panel only showed elevated prolactin, possibly due to her breastfeeding. She was treated with a right pterional craniotomy with decompression of both optic nerves, partial resection of the suprasellar mass, and glucocorticoid therapy for headaches and visual disturbances.
CONCLUSION
This case is notable for a presentation of lymphocytic hypophysitis without symptoms of hypopituitarism. This is important for outpatient providers to be aware of, especially those that care for pregnant patients so that unfavorable outcomes can be avoided.
Topics: Humans; Pregnancy; Female; Adult; Pituitary Neoplasms; Autoimmune Hypophysitis; Pituitary Diseases; Hypopituitarism; Pituitary Hormones; Headache; Magnetic Resonance Imaging
PubMed: 38326790
DOI: 10.1186/s12902-024-01546-z -
AACE Clinical Case Reports 2024Pituitary abscess is an uncommon life-threatening disease that could lead to panhypopituitarism. It is important to suspect its prevalence in regions with endemic...
BACKGROUND/OBJECTIVE
Pituitary abscess is an uncommon life-threatening disease that could lead to panhypopituitarism. It is important to suspect its prevalence in regions with endemic infectious diseases.
CASE REPORT
A 55-year-old man, a farmer, with a background of consumption of unpasteurized dairy products, presented with headache, impaired consciousness, and fever that started in February 2023. Initial test results were consistent with neuroinfection. Brain MRI showed ventriculitis; the pituitary gland was heterogeneous with the presence of an 8 × 8 mm abscess. The pituitary hormone axis was evaluated, and it showed results compatible with the results of panhypopituitarism with central hypothyroidism, central hypocortisolism, central hypogonadism, and growth hormone deficiency. Hormone replacement treatment with hydrocortisone and levothyroxine was started. The Rose Bengal test for and 2-mercaptoethanol Brucella agglutination test showed positive results. After neurobrucellosis (NB) was diagnosed, antibiotic treatment was commenced. The patient was discharged 6 weeks later and treatment with prednisone, levothyroxine, recombinant somatropin, testosterone, as well as doxycycline, and rifampin was continued for another 4 months.
DISCUSSION
NB and pituitary abscess are rare manifestations of brucellosis and are challenging to diagnose due to their nonspecific clinical presentation and cerebrospinal fluid (CSF) findings. NB diagnosis relies on neurologic symptoms and serological evidence of Brucella infection. Magnetic resonance imaging is the preferred diagnostic tool for pituitary abscesses. Medical management may be sufficient, while transsphenoidal drainage is not always necessary. Hormonal deficits typically remain permanent.
CONCLUSION
Pituitary abscess could be suspected in patients presenting with symptoms of neuroinfection, panhypopituitarism, and heterogenous image in the magnetic resonance imaging differential diagnosis. Opportune management can lead to reduced mortality and improved recovery of the pituitary hormone function.
PubMed: 38303770
DOI: 10.1016/j.aace.2023.10.005 -
Endocrine Journal Mar 2024Pituitary xanthogranulomatomas (XG) are a rare pathological entity caused by accumulation of lipid laden macrophages and reactive granuloma formation usually triggered...
Pituitary xanthogranulomatomas (XG) are a rare pathological entity caused by accumulation of lipid laden macrophages and reactive granuloma formation usually triggered by cystic fluid leakage or hemorrhage. Our aim was to compare clinical characteristics and presenting features of patients with secondary etiology of XG and those with no identifiable founding lesion (primary -"pure" XG) in order to gain new insights into this rare pituitary pathology. In a retrospective review of 714 patients operated for sellar masses, at tertiary center, we identified 16 (2.24%) with histologically confirmed diagnosis of pituitary XG over the period of 7 years (2015-2021). Patients were further analyzed according to XG etiology: "pure"- XG (n = 8) with no identifiable founding lesion were compared to those with histological elements of pituitary tumor or cyst - secondary XG (n = 8). We identified 16 patients (11 male), mean age 44.8 ± 22.3 years, diagnosed with pituitary XG. Secondary forms were associated with Ratke's cleft cyst (RCC, n = 2) and pituitary adenoma (PA, n = 6). The most common presenting features in both groups were hypopituitarism (75%), headache (68.5%) and visual disturbances (37.5%). Predominance of male sex was noted (males 68.75%, females 31.25%), especially in patients with primary forms. Patients with primary pituitary XG were all males (p = 0.0256) and more frequently affected by panhypopituitarism (87.5% vs. 25%, p = 0.0406) compared to patients with secondary causes. Hyperprolactinemia was noted in pituitary tumor group with secondary etiology only (p = 0.0769). Majority of lesions were solid on magnetic resonance imaging - MRI (81.25%). Distinct clinical phenotype was observed dependent on the etiology of XG.
Topics: Female; Humans; Male; Young Adult; Adult; Middle Aged; Aged; Pituitary Neoplasms; Pituitary Diseases; Pituitary Gland; Magnetic Resonance Imaging; Central Nervous System Cysts; Cysts; Granuloma; Xanthomatosis
PubMed: 38281757
DOI: 10.1507/endocrj.EJ23-0398 -
Cureus Dec 2023Heterozygous mutations of ()can result in ocular malformations, pituitary abnormalities, or hypopituitarism spanning from isolated growth hormone (GH) deficiency to...
Heterozygous mutations of ()can result in ocular malformations, pituitary abnormalities, or hypopituitarism spanning from isolated growth hormone (GH) deficiency to combined pituitary hormone deficiency. We present a patient exhibiting growth and pubertal disturbances, developmental delay, and pigmentary retinopathy. Further examination revealed deficiencies in GH following clonidine stimulation, hypogonadism, and, subsequently, central hypothyroidism. Brain magnetic resonance imaging uncovered hypoplasia of the pituitary and an ectopic pituitary tissue. Sequence analysis of identified a novel heterozygous mutation c.555_556dup, p.(Ser186Ilefs*21), indicative of a frameshift mutation. Replacement therapy with recombinant human GH, testosterone enanthate, and levothyroxine was started. Notably, GH therapy resulted in significant catch-up growth. This case report contributes to our comprehension of the molecular and clinical findings, particularly highlighting endocrine manifestations and a rare ophthalmologic manifestation associated with mutations in the gene.
PubMed: 38249203
DOI: 10.7759/cureus.50819 -
Case Reports in Endocrinology 2023Parathyroid carcinoma accounts for <1% of cases of primary hyperparathyroidism (PHPT). This rare condition may present with severe hypercalcemia and bone complications...
BACKGROUND
Parathyroid carcinoma accounts for <1% of cases of primary hyperparathyroidism (PHPT). This rare condition may present with severe hypercalcemia and bone complications such as osteoclastomas and pathologic fractures. Here, we present a rare condition of panhypopituitarism resulting from an osteoclastoma in the sphenoid bone that invaded the pituitary fossa due to parathyroid carcinoma. . A 47-year-old woman previously diagnosed with PHPT underwent a parathyroidectomy 6 years earlier, with histological examination indicating a parathyroid adenoma. After surgery, she continued to exhibit high serum parathyroid hormone (PTH) and calcium levels, with the development of bone pain and spontaneous fractures. Imaging exams showed a large osteoclastoma of the sphenoid bone, invading the pituitary fossa, causing hypopituitarism. A new parathyroidectomy was performed, with histological confirmation of parathyroid carcinoma and regression of the osteoclastoma.
CONCLUSION
This case illustrates an unusual presentation of parathyroid carcinoma, in which an osteoclastoma of the sphenoid bone caused hypopituitarism.
PubMed: 38156081
DOI: 10.1155/2023/8274108 -
Frontiers in Endocrinology 2023Pituitary stalk interruption syndrome (PSIS) is a congenital disease commonly found in patients with combined pituitary hormone deficiency (CPHD). Most PSIS patients... (Review)
Review
BACKGROUND
Pituitary stalk interruption syndrome (PSIS) is a congenital disease commonly found in patients with combined pituitary hormone deficiency (CPHD). Most PSIS patients manifest growth retardation and delayed puberty. We report a rare case of PSIS with tall stature, liver cirrhosis and diabetes, possibly caused by an inactivating gene mutation.
CASE PRESENTATION
A 37-year-old female patient initially presented with liver cirrhosis and diabetes, without any secondary sexual characteristics. Endocrine investigation indicated CPHD. Small anterior pituitary, invisible pituitary stalk and no eutopic posterior lobe hypersignal in the sella turcica viewed in magnetic resonance imaging (MRI) confirmed the diagnosis of PSIS. Despite receiving no growth hormone or sex hormone therapy, she reached a final height of 186 cm. Liver histopathology revealed nonalcoholic fatty cirrhosis. Genetic testing identified a heterozygous p.Arg301Cys mutation in the gene.
CONCLUSION
This is a rare case of PSIS with liver cirrhosis and diabetes associated with an inactivating gene mutation. It's supposed that early hyperinsulinism caused by the gene mutation, as well as delayed epiphyseal closure due to estrogen deficiency, contributed to the patient's exceptionally tall stature. Untreated growth hormone deficiency (GHD) resulted in increased visceral fat, leading to nonalcoholic fatty liver disease (NAFLD) and cirrhosis. The decline in β cell function with age, combined with NAFLD, may have played a role in the development of diabetes.
Topics: Female; Humans; Adult; Non-alcoholic Fatty Liver Disease; Pituitary Diseases; Pituitary Gland; Diabetes Mellitus; Mutation; Liver Cirrhosis
PubMed: 38152125
DOI: 10.3389/fendo.2023.1297146