Pituitary Hyperplasia Due to Longstanding Primary Hypothyroidism: A Case Report and Comprehensive Review of the Literature
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ABSTRACT:
SUBMITTER: Roux A
PROVIDER: S-EPMC11202140 | biostudies-literature | 2024 Jun
REPOSITORIES: biostudies-literature
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Project description:Pituitary hyperplasia is commonly present but remains largely undiagnosed in primary hypothyroidism. It is easily reversible with thyroid replacement therapy. If imaging is performed prior to biochemical evaluation, then patients may undergo pituitary surgery. We present the case of a 34-year-old female with profound primary hypothyroidism and secondary pituitary hyperplasia that resolved after thyroid hormone supplementation. We will discuss the current literature regarding pituitary hyperplasia in primary hypothyroidism in adults.
| S-EPMC6614958 | biostudies-literature
Project description:Neuroendocrine tumors (NET) originate from the diffuse neuroendocrine system. These can arise in almost every organ of the body, although they are most commonly found in the gastrointestinal tract and respiratory system. The skull base and sellar region are extremely rare sites for neuroendocrine carcinoma. Consequently, in this case, both diagnosis and definition of surgical goals, as well as further treatment strategies were challenging.A 65-year-old woman was admitted to our Neurosurgery Department with a rapidly progressive visus reduction, drowsiness, polyuria, and polydipsia. Neuroimaging showed a sellar/suprasellar mass (diameter of 2 cm) with a heterogeneous signal compressing the optic chiasm and extending laterally toward the cavernous sinus. Differential diagnosis based on imaging included pituitary macroadenoma or metastasis. The patient underwent endoscopic endonasal transsphenoidal surgery. A total resection of the mass was impossible because of the infiltration of the optic chiasm and the intraoperative histological diagnosis of malignant epithelial neoplasm. Further histological evaluation revealed that the lesion was a NET with no other primary or metastatic sites detectable. Subsequently, the patient was successfully treated with fractioned stereotactic radiotherapy and polychemotherapy. Four years after the surgery, follow-up magnetic resonance imaging showed stability of the residual disease. Neurologic examination revealed a complete visual recovery.Primary pituitary NET, though rare, should be included in the differential diagnosis of sellar lesions. A multimodality treatment approach is needed. Finally, the present case highlights, that in the case of a pituitary lesion infiltrating the optic chiasm, including NET, the endoscopic endonasal transsphenoidal subtotal resection followed by fractioned stereotactic radiotherapy and chemotherapy may represent an effective and safe choice of treatment.
| S-EPMC5473081 | biostudies-other
Project description:Multiple primary tumors, especially quadruple primary tumors, are extremely rare clinically, and there is no standard protocol for clinical management. We described a case in which a bone tumor, a malignant bladder tumor, a malignant melanoma, and an intrahepatic cholangiocarcinoma were all original malignancies. The patient is a 79-year-old woman who underwent surgery for a left middle finger bone tumor 45 years ago, as well as surgery for bladder malignancy and postoperative adjuvant chemotherapy 15 years ago, and the precise pathological results and treatment are unclear. One year ago, she underwent amputation of the toe due to a black mass of the right toe and was diagnosed pathologically as a freckled malignant melanoma of the extremity. Prior to postoperative adjuvant systemic medication, PET/CT revealed malignancy in the lateral segment of the left lobe of the liver, and multiple lymphadenopathies in the left parotid gland, hilar hepatic, and retroperitoneal region. Intrahepatic cholangiocarcinoma was found in the liver puncture biopsy's pathology report. The serum sample's next-generation sequencing (NGS) revealed a missense mutation, designated P.G12V, in exon 2 of the KRAS gene. Based on patients with malignant melanoma and intrahepatic cholangiocarcinoma, she received 6 cycles of GP (gemcitabine/cisplatin) combined with Camrelizumab systemic therapy, and followed by 3 cycles of Camrelizumab maintenance therapy, the efficacy was evaluated as stable disease (SD) during treatment. When the 4th cycle of Camrelizumab was suggested for maintenance therapy, the efficacy evaluation revealed that the tumor had greatly advanced. The patient refused to continue anti-tumor therapy and passed away from septic shock and multiple organ failure 3 months later. The patient had satisfactory efficacy and lived for a year after being diagnosed with two primary cancers. Despite the rarity of quadruple primary tumors and the lack of a conventional clinical management strategy, we postulate that germline mutations in the KRAS gene may be closely associated with the formation and development of multiple primary tumors. NGS testing is necessary for clinical management, and systemic treatment based on concurrent multiple main tumors is the key to improving prognosis.
| S-EPMC9846320 | biostudies-literature
Project description:BackgroundPrimary extranodal mucosa-associated lymphoid tissue (MALT) lymphoma in the sellar region is a rare indolent B-cell lymphoma.Case presentationA newly diagnosed patient with MALT lymphoma originating from the pituitary stalk is reported. A space-occupying lesion in the sellar region was found in a 24 year-old man who had no clinical symptoms except for those relating to a sex hormone disorder (rising estrogen and falling androgen) identified during a pre-employment physical examination. MALT lymphoma was diagnosed pathologically. Radiotherapy and chemotherapy were proposed after surgery. However, the patient selected androgen replacement therapy only rather than chemoradiotherapy. Over the next 3 months, no visual disturbance, headache, cranial nerve abnormality, or other symptoms occurred.ConclusionPrimary sellar region MALT lymphoma is an extremely rare disease. The differential diagnosis of sellar and parasellar masses should include primary sellar region MALT lymphoma. Early detection and treatment of this lymphoma can effectively improve the prognosis.
| S-EPMC10406508 | biostudies-literature
Project description:Ectopic thyroid-stimulating hormone (TSH)-secreting tumors are extremely rare, with only 15 reported cases in the literature. Herein, we described a 60-year-old female patient with thyrotoxicosis and elevated or unsuppressed levels of TSH. Family history and laboratory and genetic tests did not support a diagnosis of resistance to thyroid hormone (RTH). Given the unsuppressed TSH, TSH-secreting tumor was suspected, and magnetic resonance imaging (MRI) of the pituitary gland was performed. Surprisingly, the MRI scans revealed a nodule in the nasopharynx rather than a pituitary tumor in the sella region. Further evaluation using Gallium-68 DOTATATE positron emission tomography/computed tomography (68Ga-DOTATATE PET/CT) demonstrated increased DOTATATE uptake in the nasopharyngeal nodule. Additionally, an octreotide suppression test (OST) revealed an obvious reduction in TSH levels, further supporting the suspicion of the nasopharyngeal mass as the cause of inappropriate TSH secretion. To prepare for surgery, the patient received preoperative administration of octreotide, resulting in the normalization of TSH and thyroid hormone levels. The patient subsequently underwent successful surgical removal of the nasopharyngeal mass. Following the procedure, the patient experienced complete resolution of hyperthyroidism symptoms, with TSH declined and thyroid hormone levels returned to normal. Histochemistry analysis of the tumor revealed positive staining for TSH, growth hormone (GH), prolactin (PRL), luteinizing hormone (LH), and somatostatin receptor 2 (SSTR2). We discussed differential diagnosis of hyperthyroidism due to inappropriate TSH secretion, with a particular emphasis on the importance of 68Ga-DOTATATE PET/CT in combination with OST for identifying ectopic pituitary tumors.
| S-EPMC10955116 | biostudies-literature
Project description:BackgroundHypothyroidism is a common endocrine disorder resulting from deficiency of thyroid hormone, with iodine deficiency remains the foremost cause. It is more common in women with increasing incidence in the elderly. The manifestations of hypothyroidism results from the hypometabolism in the body at cellular level and affects all organs. Although there can be an incidental diagnosis of the disorder, the presentation with cardiac signs and symptoms is rare. We report a case of primary hypothyroidism with dysmorphic features manifesting as massive pericardial effusion with cardiac tamponade at presentation.Case summaryA female aged 20 years presented with lethargy, constipation, and dyspnoea of 6 months duration. On examination, she was short-statured and had dysmorphic features with hypotension, raised jugular venous pressure (JVP), muffled heart sounds, and thyroid stimulating hormone >100 uIU/mL. Chest X-ray showed cardiomegaly and 2DEcho confirmed cardiac tamponade for which emergency pericardiocentesis was done.DiscussionCardiovascular manifestations in hypothyroidism are dyspnoea and decreased exercise tolerance. Bradycardia, diastolic hypertension, cardiomegaly, and non-pitting or pitting peripheral oedema may be seen on physical examination. Mild pericardial effusion is common and generally asymptomatic. Massive pericardial effusion being manifested at presentation primarily as a sign of hypothyroidism is rare. A few cases have been mentioned in the literature in India and western population. Rarely, hypothyroidism presents with massive pericardial effusion resulting in cardiac tamponade as in our case.
| S-EPMC7319808 | biostudies-literature
Project description:Pituitary hyperplasia (PH) occurs in heterogeneous settings and remains under-recognised. Increased awareness of this condition and its natural history should circumvent unnecessary trans-sphenoidal surgery. We performed an observational case series of patients referred to a single endocrinologist over a 3-year period. Four young women were identified with PH manifesting as diffuse, symmetrical pituitary enlargement near or touching the optic apparatus on MRI. The first woman presented with primary hypothyroidism and likely had thyrotroph hyperplasia given prompt resolution with thyroxine. The second and third women were diagnosed with pathological gonadotroph hyperplasia due to primary gonadal insufficiency, with histopathological confirmation including gonadal-deficiency cells in the third case where surgery could have been avoided. The fourth woman likely had idiopathic PH, though she had concomitant polycystic ovary syndrome which is a debated cause of PH. Patients suspected of PH should undergo comprehensive hormonal, radiological and sometimes ophthalmological evaluation. This is best conducted by a specialised multidisciplinary team with preference for treatment of underlying conditions and close monitoring over surgical intervention.Normal pituitary dimensions are influenced by age and gender with the greatest pituitary heights seen in young adults and perimenopausal women.Pituitary enlargement may be seen in the settings of pregnancy, end-organ insufficiency with loss of negative feedback, and excess trophic hormone from the hypothalamus or neuroendocrine tumours.PH may be caused or exacerbated by medications including oestrogen, GNRH analogues and antipsychotics.Management involves identification of cases of idiopathic PH suitable for simple surveillance and reversal of pathological or iatrogenic causes where they exist.Surgery should be avoided in PH as it rarely progresses.
| S-EPMC4482158 | biostudies-literature
Project description:Primary ciliary dyskinesia (PCD) is a hereditary disorder characterized by defects in cilia that impair mucociliary clearance. This study focuses on PCD caused by mutations in the Cyclin O (CCNO) gene and reports on three cases involving Chinese children. Case 1 was an 8-year-and-3-month-old boy who presented with respiratory distress after birth and later developed a recurrent productive cough and purulent nasal discharge. He was initially diagnosed with diffuse panbronchiolitis (DPB) due to the presence of diffuse micronodules in lung CT scans. Case 2 was the younger sister of case 1. She also presented with respiratory distress after birth, with a chest radiograph revealing atelectasis. She required oxygen supplementation until the age of 2 months. Case 3 was a 4-year-and-4-month-old girl with a history of neonatal pneumonia, persistent pulmonary atelectasis, and recurrent lower respiratory tract infections. Her chest radiograph also showed diffuse micronodules. In all three cases, the final diagnosis of PCD was confirmed by genetic testing. Cases 1 and 2 exhibited homozygous c.248_252dup TGCCC (p.G85Cfs*11) mutations in the CCNO gene, while case 3 harbored a homozygous c.258_262dup GGCCC (p.Q88Rfs*8) mutation. A literature review indicated that the common clinical features of CCNO-PCD include neonatal respiratory distress (40/49, 81.6%), chronic cough (31/33, 93.9%), rhinosinusitis (30/35, 85.7%), bronchiectasis (26/35, 74.3%), and low nasal nitric oxide (nNO, 40/43, 93.0%). Notably, situs inversus has not been reported. In CCNO-PCD patients, cilia may appear structurally normal but were severely reduced in number or entirely absent. Lung CT scans in these patients may exhibit diffuse micronodules and "tree-in-bud" signs, which can lead to a clinical misdiagnosis of DPB. nNO screening combined with genetic testing is an optimized diagnostic strategy. Treatment options include the use of anti-infective and anti-inflammatory agent, along with daily airway clearance. This study underscores the importance of genetic testing in neonates and children with suspected PCD or those clinically diagnosed with DPB to enable an early diagnosis and prompt intervention, thereby enhancing the prognosis for these patients.
| S-EPMC11458413 | biostudies-literature
Project description:Consumptive hypothyroidism (CH) is a rare and potentially overlooked complication of hepatic hemangiomas (HH) overexpressing the enzyme deiodinase, which converts thyroxine (T4) to reverse triiodothyronine (rT3).Materials and methodsHere, we report a case series of 3 patients and a systematic review of the literature.ResultsHypothyroidism (mean serum TSH 52.03 mIU/L) was detected at a mean age of 4.6 months (range 3-6) in 3 infants with infantile hepatic hemangiomas, treated with thyroxine (mean dose 12 µg/kg/day). All received treatment with propranolol (1-3 mg/kg/day) from the mean age of 4 months. Hormonal treatment was stopped at a mean age of 20 months (range 12-30). Hypothyroidism reoccurred in a patient concurrently with the increase of liver lesions, requiring liver transplantation (LT) at age 39 months.Literature review retrieved 42 studies (48 patients): HH (n = 43) were isolated in 24 infants and associated with cutaneous hemangiomas in 19. Hemangiomas were only cutaneous in 5.In the first 43 patients, hypothyroidism was detected at a mean age of 1 month; 21 of 43 patients were prescribed propranolol alone (n = 8) or associated with other medicaments (n = 13); 2 of 43 patients underwent LT. Hormonal treatment consisted of T4 in 35 of 43 patients and T3 in 10.CH associated with only cutaneous and extrahepatic visceral hemangiomas (n = 5), detected at a mean age of 7 months (TSH mean levels at diagnosis of 150.3 mIU/L). Three of 5 patients received treatment with propranolol ± other medicaments. All 5 patients were treated with T4.ConclusionsPeriodical thyroid function assessment is necessary in patients with hepatic hemangiomas, particularly when lesions' size and number increase rapidly.
| S-EPMC10158424 | biostudies-literature
Project description:SummaryBiallelic pathological variants in the thyroid stimulating hormone (TSH) subunit β gene (TSHB) result in isolated TSH deficiency and secondary hypothyroidism, a rare form of central congenital hypothyroidism (CCH), with an estimated incidence of 1 in 65 000 births. It is characterised by low levels of free thyroxine and inappropriately low serum TSH and may therefore be missed on routine neonatal screening for hypothyroidism, which relies on elevated TSH. We describe a patient with CCH who developed recurrence of pituitary hyperplasia and symptomatic hypothyroidism due to poor compliance with thyroxine replacement. She was diagnosed with CCH as a neonate and had previously required trans-sphenoidal hypophysectomy surgery for pituitary hyperplasia associated with threatened chiasmal compression at 17 years of age due to variable adherence to thyroxine replacement. Genetic testing of TSHB identified compound heterozygosity with novel variant c.217A>C, p.(Thr73Pro), and a previously reported variant c.373delT, p.(Cys125Valfs*10). Continued variable adherence to treatment as an adult resulted in recurrence of significant pituitary hyperplasia, which subsequently resolved with improved compliance without the need for additional medications or repeat surgery. This case describes a novel TSHB variant associated with CCH and demonstrates the importance of consistent compliance with thyroxine replacement to treat hypothyroidism and prevent pituitary hyperplasia in central hypothyroidism.Learning pointsPathogenic variants in the TSH subunit β gene (TSHB) are rare causes of central congenital hypothyroidism (CCH). c.217A>C, p.(Thr73Pro), is a novel TSHB variant, presented in association with CCH in this case report. Thyroxine replacement is critical to prevent clinical hypothyroidism and pituitary hyperplasia. Pituitary hyperplasia can recur post-surgery if adherence to thyroxine replacement is not maintained. Pituitary hyperplasia can dramatically reverse if compliance with thyroxine replacement is improved to maintain free thyroxine (FT4) levels in the middle-to-upper normal range, without the need for additional medications or surgeries.
| S-EPMC9422232 | biostudies-literature