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JCEM Case Reports Jun 2024We present the case of a 20-year-old woman with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, with uncontrolled hyperandrogenemia despite...
We present the case of a 20-year-old woman with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, with uncontrolled hyperandrogenemia despite supraphysiological glucocorticoid therapy. We used abiraterone acetate, an inhibitor of the 17-hydroxylase/17,20-lyase enzyme, to suppress adrenal androgen synthesis and allow physiological glucocorticoid and mineralocorticoid therapy, as a proof-of-concept, before proceeding to bilateral adrenalectomy. We report the patient's clinical course, the changes in adrenal steroids, and the immunohistochemistry of the adrenals.
PubMed: 38798742
DOI: 10.1210/jcemcr/luae077 -
Chirurgie (Heidelberg, Germany) Jul 2024
Randomized Controlled Trial
[In patients with mild autonomous cortisol secretion adrenalectomy improves the control of body weight, blood glucose levels and blood pressure : Results of a controlled randomized study].
Topics: Humans; Adrenalectomy; Hydrocortisone; Blood Glucose; Female; Male; Middle Aged; Blood Pressure; Adult; Body Weight; Hypertension; Cushing Syndrome
PubMed: 38789801
DOI: 10.1007/s00104-024-02108-8 -
Journal of Pediatric Endocrinology &... May 2024Cushing's disease (CD) is a diagnostic and therapeutic challenge, especially in pediatric patients. CD, primarily caused by adrenocorticotropic hormone-secreting...
OBJECTIVES
Cushing's disease (CD) is a diagnostic and therapeutic challenge, especially in pediatric patients. CD, primarily caused by adrenocorticotropic hormone-secreting pituitary adenomas, manifests typically with growth retardation and weight gain. There are no published guidelines for pediatric patients.
CASE PRESENTATION
We report three pediatric patients diagnosed with CD in a Portuguese tertiary hospital. All patients presented with hypercortisolism features. All patients underwent transsphenoidal pituitary surgery (TSS) as a first-choice treatment; however, it was unsuccessful in one patient and the other patients experienced recurrence. Patients were submitted to different approaches so basal serum cortisol levels could be achieved. Two of three patients achieved remission.
CONCLUSIONS
TSS remains the first-line treatment yet challenging due to microadenomas and technical complexities. Medical therapy with agents like metyrapone or ketoconazole, pituitary radiotherapy, or bilateral adrenalectomy are, usually, second-line interventions, unless there is a contraindication to surgery. Our findings support the finding that a shorter hypothalamic-pituitary-adrenal axis recovery time increases the risk of recurrence of CD. Our cases illustrate the intricate management and variable outcomes of pediatric CD, underscoring the importance of multidisciplinary care and continuous surveillance.
PubMed: 38785276
DOI: 10.1515/jpem-2024-0138 -
Journal of Medical Case Reports May 2024Angiosarcoma of the adrenal gland is a very rare malignant vascular neoplasm. The clinical symptoms are atypical or completely absent. Angiosarcomas of the adrenal gland...
BACKGROUND
Angiosarcoma of the adrenal gland is a very rare malignant vascular neoplasm. The clinical symptoms are atypical or completely absent. Angiosarcomas of the adrenal gland are therefore often discovered incidentally, and the diagnosis is made histologically after resection.
CASE PRESENTATION
A 46-year-old white Spanish male who was a previous smoker and nondrinker and was slightly overweight (92 kg, 176 cm, body mass index 29.7 kg/m) with no relevant medical history presented to the internal medicine emergency department of our hospital with an unclear 12 cm tumor of the right adrenal gland. Prior to the computed tomography scan, he had had persistent evening fevers for 4 months and unintentional weight loss of 5 kg. The laboratory results showed anemia and an elevated C-reactive protein, but no hormone production. We performed an open adrenalectomy of the right adrenal gland. Finally, the histologic findings revealed an angiosarcoma of the adrenal gland.
CONCLUSION
Even though angiosarcomas of the adrenal gland are rare, the differential diagnosis of an angiosarcoma should be considered if a malignant tumor of the adrenal gland is suspected. Treatment decisions should be made on an interdisciplinary basis and preferably in a specialized center. Owing to the rarity of angiosarcomas of the adrenal gland, it is necessary to continue to share clinical experience to gain a better understanding of this particular tumor entity.
Topics: Humans; Male; Hemangiosarcoma; Middle Aged; Adrenal Gland Neoplasms; Adrenalectomy; Fever; Diagnosis, Differential; Tomography, X-Ray Computed; Recurrence
PubMed: 38783354
DOI: 10.1186/s13256-024-04583-3 -
BMC Cardiovascular Disorders May 2024Pheochromocytoma is rare in pregnant women. It presents as diverse symptoms, including hypertension and sweating. The symptoms of pregnant women with pheochromocytoma...
BACKGROUND
Pheochromocytoma is rare in pregnant women. It presents as diverse symptoms, including hypertension and sweating. The symptoms of pregnant women with pheochromocytoma and comorbid hypertension often mimic the clinical manifestations of preeclampsia, and these women are often misdiagnosed with preeclampsia.
CASE PRESENTATION
In this case, a pregnant woman presented with chest pain as the primary symptom, and a diagnosis of pheochromocytoma was considered after ruling out myocardial ischemia and aortic dissection with the relevant diagnostic tools. This patient then underwent successful surgical resection using a nontraditional management approach, which resulted in a positive clinical outcome.
CONCLUSIONS
It is essential to consider pheochromocytoma as a potential cause of chest pain and myocardial infarction-like electrocardiographic changes in pregnant women, even if they do not have a history of hypertension.
Topics: Humans; Pheochromocytoma; Female; Pregnancy; Adrenal Gland Neoplasms; Pregnancy Complications, Neoplastic; Adult; Treatment Outcome; Chest Pain; Predictive Value of Tests; Adrenalectomy; Electrocardiography
PubMed: 38769478
DOI: 10.1186/s12872-024-03943-7 -
The Journal of Clinical Endocrinology... May 2024Normalization of hypercortisolism is essential to reduce morbidity and mortality in patients with Cushing's syndrome (CS). The aim of this analysis was to assess...
BACKGROUND
Normalization of hypercortisolism is essential to reduce morbidity and mortality in patients with Cushing's syndrome (CS). The aim of this analysis was to assess biochemical control rates in patients with Cushing's disease (CD), ectopic Cushing's syndrome (ECS) and adrenal Cushing's syndrome (ACS).
METHODS
Patients with confirmed CS (n= 296) treated in a single tertiary care center were retrospectively analysed (185 CD, 27 ECS, 84 uni- and bilateral ACS).
RESULTS
Firstline treatment led to biochemical control in 82% of the patients. Time to biochemical control (median, IQR) was longer in CD (11.0 weeks, 5.6-29.8; p< 0.05) than in ACS (7.7 weeks, 4.1-17.1) and ECS (5.6 weeks, 4.1-23.3). Disease persistence or recurrence after first-line therapy was observed more often in CD (24% and 18%; p< 0.05) than in ECS (15% and 15%) and ACS (6% and 4%). Total time in hypercortisolism since diagnosis was significantly shorter in patients with CD diagnosed since 2013, after specialized patient care was implemented, compared to patients diagnosed before 2013 (13.5 weeks, vs. 26.1 weeks; p< 0.0070). Control of hypercortisolism at last follow up (76 months, 38-163) was achieved in 94% of patients with ACS, 100% of patients with ECS and 92% of patients with CD.
CONCLUSIONS
Biochemical control can be achieved in most patients with different subtypes of CS within a reasonable time frame. Control of hypercortisolism has improved over time.
PubMed: 38767080
DOI: 10.1210/clinem/dgae337 -
Clinical Endocrinology Jul 2024
Topics: Humans; Hyperaldosteronism; Adrenal Glands; Middle Aged; Female; Male; Treatment Outcome; Veins; Adult; Aldosterone; Adrenalectomy
PubMed: 38764308
DOI: 10.1111/cen.15076 -
Scientific Reports May 2024Adrenal gland incidentaloma is frequently identified through computed tomography and poses a common clinical challenge. Only selected cases require surgical...
Adrenal gland incidentaloma is frequently identified through computed tomography and poses a common clinical challenge. Only selected cases require surgical intervention. The primary aim of this study was to compare the effectiveness of selected machine learning (ML) techniques in proper qualifying patients for adrenalectomy and to identify the most accurate algorithm, providing a valuable tool for doctors to simplify their therapeutic decisions. The secondary aim was to assess the significance of attributes for classification accuracy. In total, clinical data were collected from 33 patients who underwent adrenalectomy. Histopathological assessments confirmed the proper selection of 21 patients for surgical intervention according to the guidelines, with accuracy reaching 64%. Statistical analysis showed that Supported Vector Machines (linear) were significantly better than the baseline (p < 0.05), with accuracy reaching 91%, and imaging features of the tumour were found to be the most crucial attributes. In summarise, ML methods may be helpful in qualifying patients for adrenalectomy.
Topics: Humans; Adrenal Gland Neoplasms; Male; Adrenalectomy; Machine Learning; Female; Middle Aged; Aged; Tomography, X-Ray Computed; Adult; Algorithms
PubMed: 38755394
DOI: 10.1038/s41598-024-61786-w -
The Journal of Clinical Endocrinology... May 2024Clinical practice guidelines recommend the Lateralization Index (LI) as the standard for determining surgical eligibility in primary aldosteronism (PA). Our goal was to...
BACKGROUND
Clinical practice guidelines recommend the Lateralization Index (LI) as the standard for determining surgical eligibility in primary aldosteronism (PA). Our goal was to identify the optimal LI cut-offs in adrenal venous sampling (AVS) for diagnosing PA that is amenable to surgical cure.
METHODS
We conducted a retrospective international cohort study across 16 institutions in 11 countries, including 1,550 patients with PA who underwent AVS, with and/or without ACTH stimulation. The establishment of optimal cut-offs was informed by a survey of 82 PA patients in Japan, aimed at determining the LI cut-off aligned with patient expectations for a surgical cure rate.
RESULTS
The survey revealed that a median cure rate expectation of 80% would motivate PA patients towards undergoing adrenalectomy. The optimal LI cut-offs achieving an adjusted positive predictive value (PPV) of 80% were identified as 3.8 for unstimulated AVS and 3.4 for ACTH-stimulated AVS. Furthermore, a contralateral ratio of less than 0.4 and the detection of an adrenal nodule on CT imaging were identified as independent predictors of surgically curable PA. Incorporating these factors with the optimal LI cut-offs, the adjusted PPV increased to 96.6% for unstimulated AVS and 89.6% for ACTH-stimulated AVS. No clear differences in predictive ability between unstimulated and ACTH-stimulated LI were found.
CONCLUSIONS AND RELEVANCE
The present study clarified the optimal LI cut-offs for without and with ACTH stimulation. The presence of contralateral suppression and adrenal nodule on CT imaging seems to provide additional available information besides LI for surgical indication.
PubMed: 38747468
DOI: 10.1210/clinem/dgae336 -
JFMS Open Reports 2024A 10-year-old neutered male domestic shorthair cat was presented with an abdominal mass, associated renal failure, chronic vomiting, anorexia and progressive...
CASE SUMMARY
A 10-year-old neutered male domestic shorthair cat was presented with an abdominal mass, associated renal failure, chronic vomiting, anorexia and progressive polyuria/polydipsia lasting for 3 weeks. Clinical examination and initial blood work revealed azotaemia, hypokalaemia and hypertension. Abdominal ultrasound showed an adrenal mass with a diameter of 3 cm near the right kidney. High serum aldosterone suggested primary hyperaldosteronism. Surgery enabled identification of the mass and its excision along with the right adrenal gland. Histologically, carcinoma of the adrenal cortex was diagnosed. Postoperatively, an increase in serum creatinine and potassium, along with a low serum aldosterone, led to a diagnosis of hypoaldosteronism. Mineralocorticoid therapy for 6 months was necessary, resulting in clinical and biological improvement.
RELEVANCE AND NOVEL INFORMATION
To our knowledge, this case describes the longest-lasting reported secondary hypoaldosteronism in a cat, after unilateral adrenalectomy for an adrenal carcinoma with hyperaldosteronism.
PubMed: 38746623
DOI: 10.1177/20551169241243012