Bilateral testicular adrenal rest tumors in a patient with nonclassical congenital adrenal hyperplasia.

INTRODUCTION: Solid testis tumors in post-pubertal males usually represent germ cell malignancies; however, other uncommon or rare histologies must be considered. CASE PRESENTATION: We present a case of an 18-year-old male undergoing attempted bilateral partial orchiectomies for suspected germ cell tumors. Tumor pathology, laboratory results, radiographic studies, and post-surgical elevated adrenocorticotropic hormone levels supported the diagnosis of testicular adrenal rest tumors secondary to previously undiagnosed nonclassical congenital adrenal hyperplasia. CONCLUSION: Testicular adrenal rest tumors are rare in patients with nonclassical congenital adrenal hyperplasia and may be accompanied by adrenal insufficiency and hypogonadism, which can be treated with glucocorticoid therapy and testosterone replacement. Differential diagnosis of tumors is challenging but necessary for proper symptom-based management.

New American Thyroid Association Sonographic Patterns for Thyroid Nodules Perform Well in Medullary Thyroid Carcinoma: Institutional Experience, Systematic Review, and Meta-Analysis.

BACKGROUND: The 2015 American Thyroid Association (ATA) thyroid nodule guidelines recommend selecting nodules for biopsy based on a sonographic pattern classification. These patterns were developed based on features of differentiated thyroid cancer. This study aimed to evaluate the performance and the inter-observer agreement of this classification system in medullary thyroid carcinoma (MTC). METHODS: The medical records of all patients with MTC evaluated at the authors' institution between 1998 and 2014 were retrospectively reviewed. Only patients with presurgical thyroid ultrasound available for review were included in the study. Five independent reviewers assessed the stored ultrasound images for composition, echogenicity, margins, presence of calcifications, and extrathyroidal extension for each nodule. The presence of suspicious lymph nodes was also evaluated when presurgical lateral neck ultrasound was available for review. Each nodule was classified according to the ATA sonographic patterns. Inter-observer agreement was calculated for each sonographic feature and for the sonographic patterns. To validate the findings, a systematic review of the literature and meta-analysis on the sonographic features of MTC was conducted. RESULTS: In this institutional cohort, the inter-observer agreement for individual sonographic features was moderate to good (κ = 0.45-0.71), and for the ATA classification it was good (κ = 0.72). Ninety-seven percent (29/30) of the MTCs were classified in the intermediate or high suspicion patterns. A total of 249 MTCs were included in the meta-analysis. Based on pooled frequencies for solid composition and hypoechogenicity, >95% of MTCs would be classified at least in the intermediate suspicion pattern, warranting the lowest-size threshold for biopsy (≥1 cm). CONCLUSIONS: The sonographic patterns proposed by the ATA perform well in MTC, and inter-observer agreement is good to very good.

Implications of Von Hippel-Lindau Syndrome and Renal Cell Carcinoma.

Von Hippel-Lindau syndrome (VHLS) is a rare hereditary neoplastic disorder caused by mutations in the vhl gene leading to the development of tumors in several organs including the central nervous system, pancreas, kidneys, and reproductive organs. Manifestations of VHLS can present at different ages based on the affected organ and subclass of disease. In the subclasses of VHLS that cause renal disease, renal involvement typically begins closer to the end of the second decade of life and can present in different ways ranging from simple cystic lesions to solid tumors. Mutations in vhl are most often associated with clear cell renal carcinoma, the most common type of renal cancer, and also play a major role in sporadic cases of clear cell renal carcinoma. The recurrent, multifocal nature of this disease presents difficult challenges in the long-term management of patients with VHLS. Optimization of renal function warrants the use of several different approaches common to the management of renal carcinoma such as nephron sparing surgery, enucleation, ablation, and targeted therapies. In VHLS, renal lesions of 3 cm or bigger are considered to have metastatic potential and even small lesions often harbor malignancy. Many of the aspects of management revolve around optimizing both oncologic outcome and long-term renal function. As new surgical strategies and targeted therapies develop, the management of this complex disease evolves. This review will discuss the key aspects of the current management of VHLS.

Pituitary tumor with gigantism, acromegaly and preclinical Cushing's disease diagnosed from the 10th row.

A 7'3" basketball player was noted to have 2 to 3 times thicker tissue in his hands than 6'10" players by an endocrinologist sitting 10 rows above the player in a basketball arena. This led to the diagnosis of pituitary gigantism where the history revealed that he was 7'3" at 15 years of age. At age 19 when the acryl enlargement was noted, a diagnostic workup revealed elevated growth hormones and insulin-like growth factor 1 (IGF-1) with a 2 × 1.3 cm pituitary tumor. His history suggested that his epiphyseal plates had closed at age 15, and because he continued to produce IGF-1, he now has acromegaly. His elevated adrenocorticotropic hormone (ACTH) before surgery suggests that he also had preclinical Cushing's disease. After pituitary transsphenoidal surgery, all acryl enlargement in hands and ligaments disappeared. His growth hormone, IGF-1 and ACTH returned to normal 2 weeks after surgery.

New treatments and shifting paradigms in differentiated thyroid cancer management.

BACKGROUND: Although most thyroid cancer patients have an excellent prognosis, 10% of low-risk cancers and 25% of high-risk cancers recur, with mortality rates in excess of 50% at 3 years for aggressive thyroid cancer. Traditional paradigms including surgery, I¹³¹ ablation, and TSH suppression do not offer additional therapeutic options for cancers that fail these interventions. Risk stratification and outcomes data are shifting the treatment paradigms to favor more individualized therapies based on risk, and new treatment targets have been identified with promise to treat more aggressive thyroid cancer. METHODS: The authors review the recent literature and published guidelines on thyroid cancer and summarize changing management paradigms and treatments of thyroid cancer. RESULTS: Outcomes data and risk stratification have promoted changes to traditional paradigms. Total/near-total thyroidectomy improves outcomes in both recurrence and mortality. Central compartment lymph node dissection facilitates nodal status determination and likely improves outcomes, while low-risk patients with small tumors are not likely to benefit from I¹³¹ remnant ablation. Early-phase studies have demonstrated significant improvement in progression-free survival with multikinase inhibitors targeting MAPK and angiogenic pathways. CONCLUSIONS: Risk stratification and outcomes data have modified treatment paradigms in thyroid cancer. Patients with progressive thyroid cancer that is no longer surgically resectable or iodine avid should be considered for treatment with multikinase inhibitors, preferably by enrollment in a therapeutic treatment trial.

Management of isolated Adrenal Lesions in Cancer Patients.

BACKGROUND: Adrenal lesions are commonly identified in patients with extra-adrenal cancer. When lesions are present, it is important to identify if the lesion is a metastasis of the primary cancer or a primary adrenal neoplasm. If primary, the adrenal lesion must be evaluated for hypersecretion and its malignant potential determined for appropriate treatment planning. METHODS: Recent literature was reviewed that focused on the normal investigation of adrenal lesions including radiographic imaging and hormonal evaluations as well as specific focused therapeutic options available for isolated metastatic adrenal lesions. RESULTS: This review presents a pathway approach in investigating these lesions and also discusses various potential treatment options. CONCLUSIONS: A proper investigative workup of an adrenal lesion in a cancer patient is critical for proper management. Isolated adrenal metastatic lesions in the cancer patient should be surgically removed when possible, but other options can be considered. In patients who do not have metastasis from extra-adrenal cancer, the decision for surgical resection is dependent on functionality of the tumor and it's potential for malignancy. Observation plays a key role in those tumors that are nonfunctioning and have a low risk of malignancy.

AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS MEDICAL GUIDELINES FOR CLINICAL PRACTICE FOR THE EVALUATION AND TREATMENT OF HYPERTHYROIDISM AND HYPOTHYROIDISM.

These clinical practice guidelines summarize the recommendations of the American Association of Clinical Endocrinologists for the diagnostic evaluation of hyperthyroidism and hypothyroidism and for treatment strategies in patients with these disorders. The sensitive thyroid-stimulating hormone (TSH or thyrotropin) assay has become the single best screening test for hyperthyroidism and hypothyroidism, and in most outpatient clinical situations, the serum TSH is the most sensitive test for detecting mild thyroid hormone excess or deficiency. Therapeutic options for patients with Graves' disease include thyroidectomy (rarely used now in the United States), antithyroid drugs (frequently associated with relapses), and radioactive iodine (currently the treatment of choice). In clinical hypothyroidism, the standard treatment is levothyroxine replacement, which must be tailored to the individual patient. Awareness of subclinical thyroid disease, which often remains undiagnosed, is emphasized, as is a system of care that incorporates regular follow-up surveillance by one physician as well as education and involvement of the patient.