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1.
BMJ Case Rep ; 17(7)2024 Jul 04.
Article in English | MEDLINE | ID: mdl-38964875

ABSTRACT

Variations in parathyroid gland positions often cause failure in initial parathyroid adenoma surgery, especially when imaging fails to localise the adenoma. This report describes a female patient with primary hyperparathyroidism for which preoperative localisation studies did not determine the position of the hyperfunctioning gland. The initial approach with bilateral cervical exploration and intraoperative parathyroid hormone monitoring was performed unsuccessfully. A mediastinal adenoma was suspected due to meticulous negative neck exploration and repeated negative images for a neck adenoma. Subsequently, a second approach involving mediastinal exploration was performed. After the removal of remnant thymic tissue in the mediastinal space, a significant drop in intraoperative parathyroid hormone levels was achieved. The pathological result confirmed the presence of a tiny pathological parathyroid adenoma within the thymus. At 6 months follow-up, postoperative biochemical assessment was consistent with normal calcium and parathyroid hormone levels.


Subject(s)
Adenoma , Hyperparathyroidism, Primary , Parathyroid Neoplasms , Humans , Parathyroid Neoplasms/complications , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/diagnostic imaging , Female , Hyperparathyroidism, Primary/surgery , Hyperparathyroidism, Primary/etiology , Hyperparathyroidism, Primary/complications , Hyperparathyroidism, Primary/diagnosis , Hyperparathyroidism, Primary/diagnostic imaging , Adenoma/complications , Adenoma/surgery , Adenoma/diagnostic imaging , Mediastinal Neoplasms/complications , Mediastinal Neoplasms/diagnostic imaging , Mediastinal Neoplasms/surgery , Parathyroid Hormone/blood , Middle Aged , Parathyroid Glands/diagnostic imaging , Parathyroidectomy
3.
Surg Clin North Am ; 104(4): 791-798, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38944499

ABSTRACT

Primary hyperparathyroidism (PHPT) is a disorder characterized by the autonomous overproduction of parathyroid hormone (PTH) that leads to hypercalcemia, multiple clinical sequelae, and heterogenous presentation. Whether PHPT is caused by a single benign adenoma (85%), multiglandular disease (15%), or parathyroid carcinoma (1%), surgery is the definitive treatment.


Subject(s)
Hyperparathyroidism, Primary , Parathyroid Neoplasms , Parathyroidectomy , Humans , Hyperparathyroidism, Primary/diagnosis , Hyperparathyroidism, Primary/surgery , Hyperparathyroidism, Primary/complications , Hyperparathyroidism, Primary/therapy , Parathyroidectomy/methods , Parathyroid Neoplasms/complications , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/diagnosis , Parathyroid Hormone/blood , Parathyroid Hormone/metabolism , Hypercalcemia/etiology , Hypercalcemia/diagnosis , Hypercalcemia/therapy , Adenoma/complications , Adenoma/surgery , Adenoma/diagnosis
4.
Front Endocrinol (Lausanne) ; 15: 1407615, 2024.
Article in English | MEDLINE | ID: mdl-38919490

ABSTRACT

Acromegaly is a rare endocrine disorder caused by hypersecretion of growth hormone (GH) from a pituitary adenoma. Elevated GH levels stimulate excess production of insulin-like growth factor 1 (IGF-1) which leads to the insidious onset of clinical manifestations. The most common primary central nervous system (CNS) tumors, meningiomas originate from the arachnoid layer of the meninges and are typically benign and slow-growing. Meningiomas are over twice as common in women as in men, with age-adjusted incidence (per 100,000 individuals) of 10.66 and 4.75, respectively. Several reports describe co-occurrence of meningiomas and acromegaly. We aimed to determine whether patients with acromegaly are at elevated risk for meningioma. Investigation of the literature showed that co-occurrence of a pituitary adenoma and a meningioma is a rare phenomenon, and the majority of cases involve GH-secreting adenomas. To the best of our knowledge, a systematic review examining the association between meningiomas and elevated GH levels (due to GH-secreting adenomas in acromegaly or exposure to exogenous GH) has never been conducted. The nature of the observed coexistence between acromegaly and meningioma -whether it reflects causation or mere co-association -is unclear, as is the pathophysiologic etiology. Systematic review registration: https://www.crd.york.ac.uk/prospero/, identifier CRD42022376998.


Subject(s)
Acromegaly , Meningeal Neoplasms , Meningioma , Humans , Meningioma/complications , Meningioma/etiology , Meningioma/pathology , Meningioma/epidemiology , Acromegaly/complications , Meningeal Neoplasms/complications , Meningeal Neoplasms/epidemiology , Meningeal Neoplasms/pathology , Human Growth Hormone/metabolism , Human Growth Hormone/blood , Risk Factors , Adenoma/complications , Adenoma/metabolism , Adenoma/pathology , Adenoma/epidemiology
5.
Khirurgiia (Mosk) ; (6): 81-87, 2024.
Article in Russian | MEDLINE | ID: mdl-38888023

ABSTRACT

We present successful surgical treatment of a patient with chronic kidney disease (CKD) and hyperparathyroidism undergoing renal replacement therapy. At baseline, parathyroidectomy via cervical access was performed for parathyroid adenomas. After 6 years, clinical and laboratory relapse of disease required thoracoscopic resection of atypically located anterior mediastinal adenoma. This case demonstrates that this disease is one of the most difficult in modern medicine requiring a special approach in diagnosis and treatment. Patients with CKD and hyperparathyroidism need for follow-up, control of total and ionized serum calcium, inorganic phosphorus and parathormone, osteodensitometry, ultrasound and scintigraphy of thyroid and parathyroid glands, and, if necessary, CT or MRI of the neck and chest organs.


Subject(s)
Adenoma , Parathyroid Neoplasms , Parathyroidectomy , Humans , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/complications , Parathyroid Neoplasms/diagnosis , Parathyroidectomy/methods , Adenoma/surgery , Adenoma/complications , Adenoma/diagnosis , Treatment Outcome , Neoplasm Recurrence, Local/surgery , Parathyroid Glands/surgery , Middle Aged , Thoracoscopy/methods , Male , Female , Mediastinal Neoplasms/surgery , Mediastinal Neoplasms/complications , Mediastinal Neoplasms/diagnosis , Hyperparathyroidism, Secondary/surgery , Hyperparathyroidism, Secondary/etiology , Hyperparathyroidism, Secondary/diagnosis , Renal Insufficiency, Chronic/complications , Renal Insufficiency, Chronic/diagnosis , Mediastinum/surgery
6.
J ASEAN Fed Endocr Soc ; 39(1): 115-119, 2024.
Article in English | MEDLINE | ID: mdl-38863924

ABSTRACT

Primary hyperparathyroidism (PHPT) is rare in pregnancy. This condition is challenging to diagnose and manage due to the limited diagnostic and therapeutic options that are safe during pregnancy. If not diagnosed and managed in a timely manner, serious maternal and foetal complications may occur. We report two cases, one with surgical intervention and one without, to show the importance of timely surgical intervention and discuss the challenges in the management of PHPT in pregnancy.


Subject(s)
Hyperparathyroidism, Primary , Humans , Female , Pregnancy , Hyperparathyroidism, Primary/diagnosis , Hyperparathyroidism, Primary/surgery , Hyperparathyroidism, Primary/complications , Adult , Pregnancy Complications/diagnosis , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/complications , Parathyroid Neoplasms/diagnosis , Parathyroidectomy , Pregnancy Complications, Neoplastic/surgery , Adenoma/surgery , Adenoma/complications , Adenoma/diagnosis , Treatment Outcome
8.
Pol Przegl Chir ; 96(3): 40-50, 2024 Mar 20.
Article in English | MEDLINE | ID: mdl-38940244

ABSTRACT

<b><br>Introduction:</b> Primary hyperparathyroidism (PHPT) is mainly caused by parathyroid adenoma (PA). Rare variants of PA, weighing >2.0-3.5 g are called "large" or "giant" adenomas and account for about 1.5% of all PA.</br> <b><br>Aim:</b> The aim of this study was to compare normal-sized and large parathyroid lesions identifying risk factors for severe hypercalcemia.</br> <b><br>Materials and methods:</b> 27 patients with PHPT and parathyroid lesion ≥2.0 cm3 (study group) were compared with 73 patients with PHPT and lesion < 2.0 cm<sup>3</sup> (control group). In both groups, the majority were women (81.5% - study group, 90.5% - control group, gender ratios 4.4:9.1, respectively). The patients were examined preoperatively and postoperatively: PTH, creatine, calcium, and phosphate serum and urine concentrations, and calcidiol serum levels were assessed. Preoperative ultrasonography (US) was performed.</br> <b><br>Results:</b> Patients with larger parathyroid lesions had signifficantly higher PTH and calcium serum concentrations and lower serum phosphate and calcidiol concentrations. There were no statistically significant differences in the concentration of creatine in serum and urine, calciuria, or tubular reabsorption of phosphorus (TRP). US relatively underestimated the parathyroid volume by about 0.3-0.4 mL (10% in larger lesions and 43% in smaller ones).</br> <b><br>Conclusions:</b> Due to higher PTH and calcium levels, larger parathyroid adenomas may constitute a higher risk of severe hypercalcemia. In general, US underestimated the parathyroid volume.</br>.


Subject(s)
Adenoma , Hypercalcemia , Parathyroid Neoplasms , Humans , Hypercalcemia/etiology , Hypercalcemia/blood , Hypercalcemia/diagnosis , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/complications , Parathyroid Neoplasms/blood , Female , Male , Middle Aged , Adenoma/surgery , Adenoma/complications , Adenoma/blood , Adult , Aged , Risk Factors , Hyperparathyroidism, Primary/surgery , Hyperparathyroidism, Primary/blood , Hyperparathyroidism, Primary/complications , Calcium/blood , Parathyroidectomy
9.
Clin Nucl Med ; 49(8): 774-776, 2024 Aug 01.
Article in English | MEDLINE | ID: mdl-38778473

ABSTRACT

ABSTRACT: 99m Tc-MIBI scintigraphy is a nuclear medicine imaging modality commonly used for the preoperative localization of parathyroid adenomas in patients with hyperparathyroidism. In addition, 99m Tc-MIBI can also be used for imaging various tumors due to its unique mechanism of intracellular accumulation. Here, we introduced a case of a single 99m Tc-MIBI SPECT/CT simultaneously visualized two different malignant tumors, such as papillary thyroid cancer and small cell lung cancer, along with a parathyroid adenoma in a patient with hyperparathyroidism. The clinical usefulness of 99m Tc-MIBI SPECT/CT was also explored by comparing it with 18 F-FDG PET/CT among the three tumors.


Subject(s)
Fluorodeoxyglucose F18 , Hyperparathyroidism , Lung Neoplasms , Parathyroid Neoplasms , Positron Emission Tomography Computed Tomography , Single Photon Emission Computed Tomography Computed Tomography , Small Cell Lung Carcinoma , Technetium Tc 99m Sestamibi , Thyroid Cancer, Papillary , Thyroid Neoplasms , Humans , Parathyroid Neoplasms/diagnostic imaging , Parathyroid Neoplasms/complications , Thyroid Neoplasms/diagnostic imaging , Thyroid Neoplasms/complications , Lung Neoplasms/diagnostic imaging , Lung Neoplasms/complications , Small Cell Lung Carcinoma/diagnostic imaging , Small Cell Lung Carcinoma/complications , Thyroid Cancer, Papillary/diagnostic imaging , Thyroid Cancer, Papillary/complications , Hyperparathyroidism/diagnostic imaging , Carcinoma, Papillary/diagnostic imaging , Adenoma/diagnostic imaging , Adenoma/complications , Middle Aged , Female , Male
10.
World Neurosurg ; 187: 184-193.e6, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38697260

ABSTRACT

OBJECTIVE: This study aims to evaluate the impact of surgical intervention on anxiety levels in patients with various types of pituitary adenoma (PA). METHOD: A systematic review was conducted following PRISMA guidelines until October 2022, searching Embase, PubMed, Web of Sciences, and Scopus. RESULTS: A total of 32 studies were included, encompassing 2,681 patients with the mean age of 53.33 ± 6.48 years (43.4% male). Among all subtypes, 664 diagnosed with Cushing's disease (25.8%), 612 with acromegaly (23.8%), 282 with prolactinoma (10.9%), and 969 with nonfunctional pituitary adenomas (37.6%). Pituitary insufficiency was the most common complication. Considering therapeutic modalities, 515 patients (29.8%) underwent endoscopic trans-sphenoidal surgery, while 222 (12.9%) underwent microscopic trans-sphenoidal surgery. The type of trans-sphenoidal surgery was not specified in 977 (56.6%) patients. A total of 17 studies including 1510 patients which mostly assessed anxiety using the Hospital Anxiety and Depression Scale (HADS) and Zung Self-Rating Anxiety Scale (SAS) were included in the meta-analysis. Preoperative evaluation using Hospital Anxiety and Depression Scale (HADS) questionnaire showed a pooled score of 8.27 (95%CI 4.54-12.01), while postoperative evaluation yielded a pooled score of 6.49 (95%CI 5.35-7.63), indicating no significant difference. Preoperative SAS assessment resulted in a pooled score of 50.43 (95%CI 37.40-63.45), with postoperative pooled score of 55.91 (95%CI 49.40-62.41), showing no significant difference. CONCLUSIONS: Our analysis revealed no significant difference in anxiety scores pre- and postoperatively. While our findings suggest stability in anxiety levels following surgical intervention, it is imperative to recognize the limitations of the current evidence base. The observed lack of consensus may be influenced by factors such as the heterogeneous nature of the patient population, variations in the characteristics of pituitary adenomas, diverse therapeutic approaches, and potential confounding variables such as pre-existing mental health conditions and coping mechanisms. Further research is warranted to elucidate the nuanced relationship between surgical intervention for PA and anxiety outcomes, considering these complex interactions and employing rigorous methodologies to address potential sources of bias.


Subject(s)
Adenoma , Anxiety Disorders , Pituitary Neoplasms , Humans , Pituitary Neoplasms/surgery , Pituitary Neoplasms/psychology , Pituitary Neoplasms/complications , Adenoma/surgery , Adenoma/psychology , Adenoma/complications , Anxiety Disorders/psychology , Neurosurgical Procedures/methods
11.
Eur J Endocrinol ; 190(6): 458-466, 2024 Jun 05.
Article in English | MEDLINE | ID: mdl-38771697

ABSTRACT

OBJECTIVE: The aim of this study is to compare the response to first-line medical treatment in treatment-naive acromegaly patients with pure growth hormone (GH)-secreting pituitary adenoma (GH-PA) and those with GH and prolactin cosecreting PA (GH&PRL-PA). DESIGN: This is a retrospective multicentric study of acromegaly patients followed from 2003 to 2023 in 33 tertiary Spanish hospitals with at least 6 months of first-line medical treatment. METHODS: Baseline characteristics, first-line medical treatment strategies, and outcomes were analyzed. We employed a multiple logistic regression full model to estimate the impact of some baseline characteristics on disease control after each treatment modality. RESULTS: Of the 144 patients included, 72.9% had a GH-PA, and 27.1% had a GH&PRL-PA. Patients with GH&PRL-PA were younger (43.9 ± 15.0 vs 51.9 ± 12.7 years, P < .01) and harboring more frequently macroadenomas (89.7% vs 72.1%, P = .03). First-generation somatostatin receptor ligand (fgSRL) as monotherapy was given to 106 (73.6%) and a combination treatment with fgSRL and cabergoline in the remaining 38 (26.4%). Patients with GH&PRL-PA received more frequently a combination therapy (56.4% vs 15.2%, P < .01). After 6 months of treatment, in the group of patients under fgSRL as monotherapy, those patients with GH&PRL-PA had worse control compared to GH-PAs (29.4% vs 55.1%, P = .04). However, these differences in the rate of disease control between both groups disappeared when both received combination treatment with fgSRL and cabergoline. CONCLUSION: In GH&PRL-PA, the biochemical control achieved with fgSRL as monotherapy is substantially worse than in patients harboring GH-PA, supporting the inclusion of cabergoline as first-line medical treatment in combination with fgSRLs in these subgroups of patients.


Subject(s)
Acromegaly , Cabergoline , Prolactin , Humans , Acromegaly/drug therapy , Acromegaly/blood , Female , Male , Middle Aged , Retrospective Studies , Adult , Cabergoline/therapeutic use , Treatment Outcome , Prolactin/blood , Growth Hormone-Secreting Pituitary Adenoma/drug therapy , Growth Hormone-Secreting Pituitary Adenoma/blood , Growth Hormone-Secreting Pituitary Adenoma/metabolism , Human Growth Hormone , Adenoma/drug therapy , Adenoma/blood , Adenoma/metabolism , Adenoma/complications , Aged , Drug Therapy, Combination , Somatostatin/analogs & derivatives , Somatostatin/therapeutic use , Pituitary Neoplasms/drug therapy , Pituitary Neoplasms/blood , Pituitary Neoplasms/metabolism , Pituitary Neoplasms/complications , Spain/epidemiology
12.
BMJ Case Rep ; 17(5)2024 May 22.
Article in English | MEDLINE | ID: mdl-38782444

ABSTRACT

Glycogen storage disease type 1A (GSD1A), also known as Von Gierke's disease, is a rare autosomal recessive disorder affecting glycogen metabolism in the liver. It most commonly presents in infancy with hypoglycaemia and failure to thrive, but cases have been reported as undiagnosed until adulthood. A woman in her early 20s with diabetes mellitus presented with right upper quadrant pain and was found to have several haemorrhagic hepatic adenomas. This patient had insulin-dependent diabetes since a pancreatectomy at age 9 months due to continued episodes of hypoglycaemia and suspected insulinoma. During the hospital stay, the hepatic adenomas were embolised, but significant lactic acidosis and hypoglycaemia continued. Further workup revealed a chronic lactic acid level, during several hospital stays, of above 5 mmol/L. After cytology of hepatic tissue ruled out hepatocellular carcinoma, the patient was discharged and recommended to follow-up for genetic testing, which confirmed the diagnosis of GSD1A.


Subject(s)
Congenital Hyperinsulinism , Glycogen Storage Disease Type I , Liver Neoplasms , Humans , Female , Liver Neoplasms/genetics , Liver Neoplasms/diagnosis , Congenital Hyperinsulinism/genetics , Congenital Hyperinsulinism/diagnosis , Glycogen Storage Disease Type I/complications , Glycogen Storage Disease Type I/genetics , Glycogen Storage Disease Type I/diagnosis , Adult , Adenoma, Liver Cell/genetics , Adenoma, Liver Cell/diagnosis , Diabetes Mellitus, Type 1/complications , Diabetes Mellitus, Type 1/diagnosis , Diabetes Mellitus, Type 1/genetics , Young Adult , Adenoma/genetics , Adenoma/diagnosis , Adenoma/complications , Adenoma/surgery , Diagnosis, Differential
13.
BMC Med Genomics ; 17(1): 124, 2024 May 06.
Article in English | MEDLINE | ID: mdl-38711024

ABSTRACT

BACKGROUND: Glycogen storage disease (GSD) is a disease caused by excessive deposition of glycogen in tissues due to genetic disorders in glycogen metabolism. Glycogen storage disease type I (GSD-I) is also known as VonGeirk disease and glucose-6-phosphatase deficiency. This disease is inherited in an autosomal recessive manner, and both sexes can be affected. The main symptoms include hypoglycaemia, hepatomegaly, acidosis, hyperlipidaemia, hyperuricaemia, hyperlactataemia, coagulopathy and developmental delay. CASE PRESENTATION: Here, we present the case of a 13-year-old female patient with GSD Ia complicated with multiple inflammatory hepatic adenomas. She presented to the hospital with hepatomegaly, hypoglycaemia, and epistaxis. By clinical manifestations and imaging and laboratory examinations, we suspected that the patient suffered from GSD I. Finally, the diagnosis was confirmed by liver pathology and whole-exome sequencing (WES). WES revealed a synonymous mutation, c.648 G > T (p.L216 = , NM_000151.4), in exon 5 and a frameshift mutation, c.262delG (p.Val88Phefs*14, NM_000151.4), in exon 2 of the G6PC gene. According to the pedigree analysis results of first-generation sequencing, heterozygous mutations of c.648 G > T and c.262delG were obtained from the patient's father and mother. Liver pathology revealed that the solid nodules were hepatocellular hyperplastic lesions, and immunohistochemical (IHC) results revealed positive expression of CD34 (incomplete vascularization), liver fatty acid binding protein (L-FABP) and C-reactive protein (CRP) in nodule hepatocytes and negative expression of ß-catenin and glutamine synthetase (GS). These findings suggest multiple inflammatory hepatocellular adenomas. PAS-stained peripheral hepatocytes that were mostly digested by PAS-D were strongly positive. This patient was finally diagnosed with GSD-Ia complicated with multiple inflammatory hepatic adenomas, briefly treated with nutritional therapy after diagnosis and then underwent living-donor liver allotransplantation. After 14 months of follow-up, the patient recovered well, liver function and blood glucose levels remained normal, and no complications occurred. CONCLUSION: The patient was diagnosed with GSD-Ia combined with multiple inflammatory hepatic adenomas and received liver transplant treatment. For childhood patients who present with hepatomegaly, growth retardation, and laboratory test abnormalities, including hypoglycaemia, hyperuricaemia, and hyperlipidaemia, a diagnosis of GSD should be considered. Gene sequencing and liver pathology play important roles in the diagnosis and typing of GSD.


Subject(s)
Glycogen Storage Disease Type I , Liver Neoplasms , Liver Transplantation , Humans , Glycogen Storage Disease Type I/genetics , Glycogen Storage Disease Type I/complications , Glycogen Storage Disease Type I/pathology , Female , Adolescent , Liver Neoplasms/genetics , Liver Neoplasms/pathology , Liver Neoplasms/complications , Adenoma/genetics , Adenoma/complications , Adenoma/pathology , Adenoma, Liver Cell/genetics , Adenoma, Liver Cell/complications , Adenoma, Liver Cell/pathology , Inflammation/genetics , Inflammation/pathology , Inflammation/complications
14.
Front Endocrinol (Lausanne) ; 15: 1355916, 2024.
Article in English | MEDLINE | ID: mdl-38665259

ABSTRACT

Introduction: 24-Hydroxylase, encoded by the CYP24A1 gene, is a crucial enzyme involved in the catabolism of vitamin D. Loss-of-function mutations in CYP24A1 result in PTH-independent hypercalcaemia with high levels of 1,25(OH)2D3. The variety of clinical manifestations depends on age, and underlying genetic predisposition mutations can lead to fatal infantile hypercalcaemia among neonates, whereas adult symptoms are usually mild. Aim of the study: We report a rare case of an adult with primary hyperparathyroidism and loss-of-function mutations in the CYP24A1 gene and a review of similar cases. Case presentation: We report the case of a 58-year-old woman diagnosed initially with primary hyperparathyroidism. Preoperatively, the suspected mass adjoining the upper pole of the left lobe of the thyroid gland was found via ultrasonography and confirmed by 99mTc scintigraphy and biopsy as the parathyroid gland. The patient underwent parathyroidectomy (a histopathology report revealed parathyroid adenoma), which led to normocalcaemia. After 10 months, vitamin D supplementation was introduced due to deficiency, and the calcium level remained within the reference range. Two years later, biochemical tests showed recurrence of hypercalcaemia with suppressed parathyroid hormone levels and elevated 1,25(OH)2D3 concentrations. Further investigation excluded the most common causes of PTH-independent hypercalcaemia, such as granulomatous disease, malignancy, and vitamin D intoxication. Subsequently, vitamin D metabolites were measured using LC-MS/MS, which revealed high levels of 25(OH)D3, low levels of 24,25(OH)2D3 and elevated 25(OH)2D3/24,25(OH)2D3 ratios, suggesting a defect in vitamin D catabolism. Molecular analysis of the CYP24A1 gene using the NGS technique revealed two pathogenic variants: p.(Arg396Trp) and p.(Glu143del) (rs114368325 and rs777676129, respectively). Conclusions: The diagnostic process for hypercalcaemia becomes complicated when multiple causes of hypercalcaemia coexist. The measurement of vitamin D metabolites using LC-MS/MS may help to identify carriers of CYP24A1 mutations. Subsequent molecular testing may contribute to establishing the exact frequency of pathogenic variants of the CYP24A1 gene and introducing personalized treatment.


Subject(s)
Adenoma , Hypercalcemia , Parathyroid Neoplasms , Vitamin D3 24-Hydroxylase , Humans , Hypercalcemia/genetics , Female , Middle Aged , Vitamin D3 24-Hydroxylase/genetics , Parathyroid Neoplasms/genetics , Parathyroid Neoplasms/complications , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/pathology , Adenoma/genetics , Adenoma/complications , Adenoma/pathology , Mutation , Parathyroidectomy
15.
Medicina (B Aires) ; 84(2): 342-346, 2024.
Article in English | MEDLINE | ID: mdl-38683521

ABSTRACT

Primary hyperparathyroidism (PHPT) is characterized by elevated levels of calcium and parathyroid hormone (PTH). However, the interpretation of diagnostic tests, such as serum calcium and PTH levels, is complex in pregnant women. The aim of this report is to present a case of PHTP in a pregnant adolescent, with a special emphasis on an uncommon complication, as well as diagnostic and treatment strategies. A 17-year-old pregnant female presented with hyperemesis gravidarum and neurological symptoms, leading to the diagnosis of cerebral venous thrombosis. Further investigations revealed hypercalcemia and persistently elevated PTH levels, consistent with PHPT. After localization studies, the patient underwent an emergency parathyroidectomy with a diagnosis of parathyroid adenoma. During follow-up, intrauterine growth restriction and severe preeclampsia developed, necessitating an emergency cesarean section. Both the mother and neonate had favorable outcomes. PHPT is an infrequent condition in the pregnant population, and its diagnosis can be challenging due to the overlap of symptoms with normal physiological changes during pregnancy. The occurrence of uncommon complications, such as thrombotic phenomena, highlights the need for a comprehensive approach to ensure early detection and management. In most cases, parathyroidectomy is the treatment of choice.


El hiperparatiroidismo primario (HPTP) se caracteriza por niveles elevados de calcio y hormona paratiroidea (PTH). Sin embargo, la interpretación de pruebas diagnósticas, como los niveles de calcio sérico y PTH, es compleja en mujeres embarazadas. El objetivo de este reporte es presentar un caso de HPTP en una adolescente embarazada, con especial hincapié en una complicación infrecuente, así como en las estrategias diagnósticas y de tratamiento. Una mujer embarazada de 17 años presentó hiperémesis gravídica y síntomas neurológicos, lo que llevó al diagnóstico de trombosis venosa cerebral. Posteriores investigaciones revelaron hipercalcemia y niveles persistentemente elevados de PTH, consistentes con HPTP. Tras la realización de estudios de localización, la paciente fue sometida a una paratiroidectomía de emergencia con diagnóstico de adenoma de paratiroides. Durante el seguimiento, se desarrolló restricción del crecimiento intrauterino y preeclampsia grave, lo que resultó en la necesidad de realizar una cesárea de emergencia. Tanto la madre como el neonato evolucionaron favorablemente. El HPTP es una condición infrecuente en la población embarazada y su diagnóstico puede ser desafiante por la superposición de síntomas con los cambios fisiológicos normales del embarazo. La aparición de complicaciones infrecuentes, como fenómenos trombóticos, resalta la necesidad de un abordaje integral para garantizar la detección y el manejo temprano. En la mayoría de los casos, la paratiroidectomía es el tratamiento de elección.


Subject(s)
Hyperparathyroidism, Primary , Parathyroid Neoplasms , Parathyroidectomy , Humans , Female , Pregnancy , Hyperparathyroidism, Primary/complications , Hyperparathyroidism, Primary/diagnosis , Hyperparathyroidism, Primary/surgery , Hyperparathyroidism, Primary/blood , Parathyroid Neoplasms/complications , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/diagnosis , Adolescent , Adenoma/complications , Adenoma/surgery , Adenoma/diagnosis , Parathyroid Hormone/blood , Pregnancy Complications, Neoplastic/surgery , Pregnancy Complications, Neoplastic/diagnosis , Pregnancy Complications/diagnosis , Hyperemesis Gravidarum/complications , Hyperemesis Gravidarum/diagnosis , Hypercalcemia/etiology , Hypercalcemia/blood , Hypercalcemia/diagnosis , Cesarean Section
16.
Endocr Pract ; 30(6): 564-568, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38556080

ABSTRACT

OBJECTIVE: In contrast to adults, primary hyperparathyroidism (PHPT) in children and adolescents is a rare endocrine disorder. METHODS: A retrospective review of PHPT cases between 2005 and 2022 from a single tertiary university medical center, including clinical signs and symptoms, laboratory findings, radiological evaluation, treatment, and postoperative complications. RESULTS: Ten children (mean age at diagnosis 16.3 ± 1.3 years) were diagnosed with PHPT. All patients were in late pubertal stages without sex predominance and 8 were symptomatic. Mean calcium level was 13.6 ± 2.5 mg/dL, and mean parathyroid hormone levels were 204.8 ± 163.1 pg/mL. Parathyroid adenoma was confirmed by the postsurgical pathology results. CONCLUSIONS: PHPT in children and adolescents is often symptomatic and more severe than adults. The main cause is single parathyroid adenoma. Associated hypercalcemic syndromes were not found. Patients were cured after surgical removal of the adenoma without significant postoperative complications and no recurrence during 10.4 ± 5.9 years follow-up.


Subject(s)
Adenoma , Hyperparathyroidism, Primary , Parathyroid Neoplasms , Humans , Adolescent , Parathyroid Neoplasms/complications , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/diagnosis , Female , Male , Hyperparathyroidism, Primary/surgery , Hyperparathyroidism, Primary/diagnosis , Hyperparathyroidism, Primary/etiology , Hyperparathyroidism, Primary/complications , Retrospective Studies , Adenoma/complications , Adenoma/surgery , Adenoma/diagnosis , Child , Parathyroid Hormone/blood
17.
Best Pract Res Clin Endocrinol Metab ; 38(3): 101878, 2024 May.
Article in English | MEDLINE | ID: mdl-38519400

ABSTRACT

A small proportion of the patients with acromegaly present with apparently normal basal GH levels and suppressible GH levels despite increased IGF-1 levels, a pattern called micromegaly by some authors. Whether this pattern represents a distinct entity or is just an expression of acromegaly in its early stages is still a matter of debate. Nevertheless, these patients have some peculiar characteristics such as being more likely older and male, mostly harbour microadenomas or small macroadenomas, and have lower IGF-1 and postglucose GH levels. Even though, the frequency and severity of clinical signs and comorbidities are similar to those of patients with classic acromegaly. In conclusion, micromegaly seems to be a distinct clinical entity with a different biological behavior characterized by a low GH output.


Subject(s)
Acromegaly , Human Growth Hormone , Insulin-Like Growth Factor I , Humans , Acromegaly/pathology , Acromegaly/blood , Human Growth Hormone/blood , Human Growth Hormone/metabolism , Insulin-Like Growth Factor I/metabolism , Male , Female , Adenoma/complications , Adenoma/pathology , Adenoma/metabolism
18.
Am Surg ; 90(7): 1919-1921, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38520268

ABSTRACT

Ectopic parathyroid adenomas are an uncommon etiology of primary hyperparathyroidism. We present a case of a patient admitted to the hospital with severe hypercalcemia and elevated parathyroid hormone levels, in whom imaging revealed two distinct parathyroid masses in the prevertebral space, representing a rare and atypical location for parathyroid tissue. This case highlights the importance of considering ectopic parathyroid adenomas as a potential cause of hyperparathyroidism and discusses the diagnostic challenges and management strategies associated with such cases.


Subject(s)
Adenoma , Parathyroid Neoplasms , Humans , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/complications , Parathyroid Neoplasms/diagnosis , Adenoma/surgery , Adenoma/complications , Adenoma/pathology , Choristoma/complications , Choristoma/surgery , Choristoma/diagnosis , Female , Hyperparathyroidism, Primary/etiology , Hyperparathyroidism, Primary/surgery , Hyperparathyroidism, Primary/diagnosis , Hyperparathyroidism, Primary/complications , Middle Aged , Male , Parathyroid Glands/diagnostic imaging , Parathyroid Glands/pathology , Parathyroidectomy , Hypercalcemia/etiology
19.
Medicina (Kaunas) ; 60(3)2024 Mar 19.
Article in English | MEDLINE | ID: mdl-38541233

ABSTRACT

Background and Objectives: Primary hyperparathyroidism (pHPT) is a common endocrine disorder caused by excessive production of parathyroid hormone (PTH) leading to elevated calcium levels. Diagnosis is primarily based on biochemical evaluation, and surgery is the curative treatment. Imaging techniques like ultrasound and Tc-99m Sestamibi scintigraphy are used for localization, but selective Internal Jugular Venous (SVS) becomes valuable in cases of inconclusive or conflicting results. This study evaluated the diagnostic efficacy of SVS for localizing parathyroid adenomas in cases where non-invasive radiological diagnostic methods yielded inconclusive results or negative findings despite clinical symptoms suggestive of pHPT. Materials and Methods: In this retrospective study, a total of 28 patients diagnosed with pHPT underwent SVS at a tertiary center known for receiving referrals from 2017 to 2022. The diagnoses were confirmed through biochemical analysis. The SVS results in 22 patients were compared with non-invasive imaging methods, including ultrasound, scintigraphy, and computed tomography with/without contrast material. SVS was indicated when at least two non-invasive diagnostic procedures failed to clearly localize the parathyroid glands or provided ambiguous results. Results: SVS demonstrated higher sensitivity for localizing parathyroid adenomas compared to non-invasive imaging methods, accurately lateralizing the adenoma in 68.18% of cases. Among the SVS findings, 31.8% of patients had negative results, with 9.1% not having clinically proven parathyroid adenoma, while 22.7% had false negative SVS findings but were later confirmed to have adenoma during surgery. Ultrasound correctly identified the location in 45.45% of cases, CT in 27.27%, and scintigraphy in 40.9%. Conclusions: SVS is a valuable diagnostic tool for accurately localizing parathyroid adenomas in patients with inconclusive non-invasive imaging results. It aids in targeted surgical interventions, contributing to improved management and treatment outcomes in primary hyperparathyroidism.


Subject(s)
Adenoma , Hyperparathyroidism, Primary , Parathyroid Neoplasms , Humans , Parathyroid Neoplasms/complications , Parathyroid Neoplasms/diagnosis , Parathyroid Neoplasms/surgery , Hyperparathyroidism, Primary/diagnosis , Hyperparathyroidism, Primary/surgery , Retrospective Studies , Parathyroid Glands , Technetium Tc 99m Sestamibi , Adenoma/complications , Adenoma/diagnosis , Adenoma/surgery
20.
World Neurosurg ; 184: e659-e673, 2024 04.
Article in English | MEDLINE | ID: mdl-38342172

ABSTRACT

BACKGROUND: Giant pituitary adenomas (GPAs) are defined as tumors with ≥40 mm in any maximum diameter, and these tend to invade multiple intracranial compartments. Hence, treatment remains a surgical challenge. OBJECTIVE: To describe the clinical and surgical outcomes of the endoscopic endonasal approach (EEA) for GPA in a pituitary referral center in Latin America and to analyze associated predictive factors. METHODS: 37 patients with histologically-confirmed GPA treated solely through the EEA between a 2-year period were included. Preoperative and postoperative clinical and neuroimaging findings; surgical morbidity and mortality; and binary logistic regression analysis to assess predictive factors were analyzed. RESULTS: Preoperative visual impairment prevalence was 97.3%. Mean tumor volume was 32 cc and gross total resection rate was 40.5%. Favorable visual acuity and visual fields outcome rate was 75% and 82.9%, respectively. In the multivariate analysis, bilateral cavernous sinus invasion (P = 0.018) and postoperative cerebrospinal fluid (CSF) leak (P = 0.036) were associated with an unfavorable visual acuity outcome, while radiation therapy (P = 0.035) was for visual fields. Similarly, intraoperative CSF leak was a predictive factor for postoperative CSF leak (10.8%) (P = 0.042) and vascular injury (13.5%) (P = 0.048). CONCLUSIONS: In this first Mexican clinical series, we demonstrated that the EEA is a safe and effective technique for GPA, although early diagnosis and prompt intervention may promote further visual function preservation without significant endocrine morbidity.


Subject(s)
Adenoma , Pituitary Diseases , Pituitary Neoplasms , Humans , Pituitary Neoplasms/diagnostic imaging , Pituitary Neoplasms/surgery , Pituitary Neoplasms/complications , Adenoma/diagnostic imaging , Adenoma/surgery , Adenoma/complications , Nose/surgery , Postoperative Complications/epidemiology , Treatment Outcome , Retrospective Studies
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