Allgrove syndrome: a case report

Allgrove syndrome is an autosomal recessive disease which is characterized by Achalasia, Alacrimia and ACTH-resistant Adrenal deficiency with progressive neurological manifestations. Allgrove syndrome is caused due to mutations in AAAS gene, localized on chromosome 12q13. This report relates to an 8 years old female child who had complaints of vomting, fever, cough, hyperpigmentation and poor weight gain. Barium swallow, ophthalmic examination and ACTH stimulation test proves that patient has Allgrove’s syndrome. Management consisted of initiation of cortisone therapy which was successful in improving the hyper pigmentation. Patient was planned for surgical intervention for achalasia cardia on follow-up. Allgrove’s syndrome may be an under diagnosed disorder. High index of suspicion is needed when patients present with such complex symptoms. Diagnosing and timely intervention helps in reducing the morbidity and mortality.

Adrenocorticotropic Hormone-independent Cushing Syndrome with Right Adrenal Adenoma and HIV Infection: A Case Report

Background: Adrenocorticotropic hormone (ACTH)-independent Cushing's syndrome (CS) with right adrenal adenoma combined with HIV infection has rarely been reported. Case presentation: A 39-year-old Chinese male patient with HIV infection was admitted to our hospital due to increased blood pressure in the previous 2 years and weight gain in the previous 6 months. Endocrinological examinations showed that blood cortisol (8 a.m.) was 22.23 µg/dl, the level of ACTH (8 a.m.) was less than 1pg/ml and twenty-four-hour urinary cortisol was 1429 µg/24h. ACTH-independent CS was diagnosed based on low ACTH levels (<1.00 pg/ml), a lack of cortisol circadian rhythms and unsuppressed cortisol levels by dexamethasone. The ultrasonography and multislice spiral computed tomography scan revealed a right adrenal mass. Due to the HIV status of the patient, we measured the count of CD4+ T helper cells. Laparoscopic right adrenal resection was performed after the CD4+ T helper cell count was > 200 cells/µl. Subsequent immunohistochemical staining confirmed right adrenal adenoma. Results: The postoperative recovery was good, and wound healing was possible. After surgical treatment, endocrinological examinations indicated that the level of ACTH increased and the levels of serum cortisol and twenty-four-hour urinary cortisol decreased, which indicated that CS was controlled. CD4/CD8 was 0.47 at reexamination, and the patient's immunity was improved. Conclusion: Due to the potential side effects of steroid drugs, clinicians should use these medications with caution and closely monitor the development of adrenal deficiency.

Adrenal Tuberculosis Leading to Acute Adrenal Insufficiency

Background: Tuberculosis is the ‘world’s largest killer’ amongst infectious diseases overtaking HIV in 2014. Tuberculosis can affect the kidneys and adrenals as either primary infection or secondary dissemination from other organs. Tuberculosis in adrenals manifests in the acute phase leading to primary adrenal insufficiency, which is generally catastrophic leading to death. Case Report: We present an unusual case of a 42 years’ old man, presented & managed as a case of acute gastroenteritis. Patient had a fulminant course and succumbed to his illness. Autopsy revealed Bilateral Adrenal Tuberculosis. Conclusion: Adrenal tuberculosis has the potential of causing acute adrenal deficiency leading to Addisonian crisis and consequent mortality. Key words: Adrenal tuberculosis, Addisonian crisis, acute adrenal insufficiency.

Long-term use of Temozolomide as safe and effective therapy for an aggressive Corticotroph Adenoma in a very old patient

Background Temozolomide (TMZ) is safe and effective in the treatment of aggressive pituitary adenomas (PAs). However, the optimal duration of TMZ therapy is still unknown. Moreover, data about administration of TMZ in elderly (&gt; 65 years) people to treat aggressive PAs are scarce. We report the case of the oldest female patient undergoing the longest TMZ protocol described so far to treat an aggressive, initially silent corticotroph PA. Case report The patient initially underwent partial surgical removal of the PA. Subsequent treatment with Cabergoline was applied, but it was unsuccessful in controlling the growth of the residual tumour. Pasireotide and external radiation also showed to be ineffective, therefore, treatment with TMZ was started at the standard dose of 200 mg/m 2/day for 5 days every 4 weeks for a total of 47 cycles. At the time of treatment’s beginning, the patient was 83 years old. Radiological follow-up documented a progressive, remarkable reduction of the adenoma and the last imaging, after 39 cycles of TMZ, showed an intrasellar lesion with large areas of cystic degeneration. The patient also developed adrenal deficiency managed with glucocorticoid replacement. No major side effects were observed throughout the treatment, with exception of nausea, well controlled with anti-emetic medication. TMZ therapy was discontinued after 47 cycles; hormonal and imaging follow up investigations documented sustained functional and dimensional response. Conclusions Our case supports the long-term use of TMZ, confirming its safety and efficacy also for elderly patients.

Hypogonadism: Is It Always Hypogonadotropic in an Adolescent With a Cleft Palate? A Surprising Case of Klinefelter Syndrome

Pituitary hormone deficiencies may occur in children with midline defects; in these cases, hypogonadism is usually hypogonadotropic. Herein, we report a boy at the age of 13.8 years with mild mental retardation, previously operated for complete cleft palate (isolated) and presented with hypoglycemia due to isolated secondary adrenal insufficiency, who further had a decrease in testicular size with increased follicle-stimulating hormone level (hypergonadotropic hypogonadism) and diagnosed with Klinefelter syndrome. Klinefelter syndrome in childhood is rarely diagnosed and cases are observed in a wide spectrum. Although some regional duplications of the X chromosome also show midline defects such as spina bifida-neural tube defects, mental retardation, hypopituitarism (mostly growth hormone deficiency); coexistence of Klinefelter syndrome and isolated secondary adrenal deficiency/midline defect in our case may also be coincidental. However, to our knowledge, this is the first case in literature with this association in a patient with a 47, XXY karyotype.

Treatment of gynecomastia with prednisone: case report and literature review

This study aimed to report a unique case of primary adrenal insufficiency that was accompanied by painful gynecomastia, which was resolved by treatment with prednisone. Enlargement of the left breast with continuous weakness and generalized nausea in a male was discovered 3 months before admission. Magnetic resonance imaging of the brain was normal 1 month before presentation. A physical examination revealed that the diameter of the left breast was 5 cm and the height was 3 cm. Laboratory investigations revealed hyponatremia, with a low serum cortisol level and an elevated prolactin level. Hyperprolactinemia was suspected because of adrenal deficiency that was directly or indirectly associated with increased prolactin levels. Thus, a diagnosis of hyperprolactinemia was confirmed. Ultrasonography of the left breast showed glandular tissue hyperplasia. In the present study, treating adrenal insufficiency with prednisone relieved both gynecomastia and hyponatremia. However, gynecomastia regression and hyponatremia resolution were observed when prednisone was stopped. Gynecomastia completely resolved by re-administering prednisone. Therefore, treating the underlying disease is essential so that prednisone can be given in a timely manner.

Intraoperative low field MRI in transsphenoidal pituitary surgery

Background Intraoperative low field MRI (iMRI, 0.15 T) during transsphenoidal surgery on pituitary adenomas (PAs) may significantly improve tumor removal. However, extensive surgery can lead to pituitary hormone deficiency. Furthermore, introduction of iMRI will prolong duration of surgery, which may elevate risk of postoperative infections. Methods Overall, 180 transsphenoidal surgeries for PAs from 2007 to 2015 were included. IMRI was available from 2011 to 2015, during this period 67/78 (86%) surgeries were with iMRI (iMRI, n = 67). A total of 113 surgeries were performed without iMRI (controls). All surgical procedures were performed by microscopic technique. Tumor size, hormonal status and vision were assessed before surgery and 3–5 months postoperatively. Results Gross total resection (GTR), mean tumor remnant volume and ∆-volumes were comparable between iMRI and controls: 15% (10/66) vs 23% (26/109) (P = 0.17), 2.97 cm3 (0.9–5) vs 2.1 cm3 (1.6–2.6) (P = 0.3) and 4.5 cm3 (3.6–5.5) vs 5.1 cm3 (4.2–6) (P = 0.4), respectively. Duration of surgery was significantly longer during iMRI vs controls: 126 min (117–135) vs 98 min (92–103) (P < 0.001). New pituitary–adrenal deficiency in iMRI vs controls was seen in 35% (17/48) and 35% (23/66) of surgeries, respectively (P = 0.95). New thyroid deficiency was found in 33% (13/29) and 41% (28/69) and visual field deficiencies improved in 44% (19/43) and 38% (23/60) in iMRI vs controls, respectively (P > 0.1). Conclusion Tumor remnant after pituitary surgery was not significantly reduced using intraoperative low field MRI. Duration of surgery was increased in iMRI, but was not associated with increased infection rate. Pituitary hormonal function and vision were comparable between iMRI and controls.