Thematic Issue: Rare Endocrine Diseases 2023
March 2023
Read our special collection of journal articles, published in 2021-2023, focused on rare endocrine diseases! Curation of the collection was guided by Altmetric Attention Scores and subject relevance.
In Journal of the Endocrine Society, Fagundes and Almeida discuss the perioperative management of pheochromocytomas and sympathetic paragangliomas. In a pilot study, Rubin et al. document impaired cognition among hypoparathyroidism patients, with slower processing speed associated with lower serum calcium and high serum phosphate. In an Expert Endocrine Consult, Varlamov and colleagues discuss perioperative management of patients with Cushing disease.
In Endocrinology, Lee and associates review unexplored functions of sex hormones that might have therapeutic implications in glioblastoma multiforme cancer stem cells. Dey and coauthors discuss the role of estrogen receptor beta-1 in female “triple negative” breast cancer. Warde et al. report results pointing to an additional mechanism, lipid droplet breakdown leading to lipolysis, for mitotane’s toxicity to adrenocortical carcinoma.
In Endocrine Reviews, Brito and coauthors discuss mechanisms implicated in the etiology of central precocious puberty, stressing the delicate balance between excitatory and inhibitory influences on the pulsatile release of hypothalamic gonadotropin-releasing hormone. Gravholt and colleagues discuss new discoveries about the genetics of Turner syndrome. Lerario et al. analyze genetic insights that have transformed our understanding of adrenocortical carcinoma and allow its classification into subtypes with different characteristics.
In JCEM, Hawkes and coauthors report on two novel mutations in the parathyroid hormone gene that cause isolated hypoparathyroidism. Braun et al. revisit the Endocrine Society’s 2008 Clinical Practice Guideline recommendations on who should be screened for Cushing syndrome, concuding that the recommendations remained valid in 2022. And Yu and coauthors report on the presentation, management, and outcomes from 110 cases of urinary bladder paraganglioma, emphasizing the need for continued monitoring for metastases.
Journal of the Endocrine Society
Perioperative Management of Pheochromocytomas and Sympathetic Paragangliomas
Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors arising from chromaffin cells of the adrenal medulla or extra-adrenal paraganglia, respectively. PPGLs have the highest degree of heritability among endocrine tumors. Currently, ~40% of individuals with PPGLs have a genetic germline and there are at least 12 different genetic syndromes related to these tumors.
A Pilot Study of Cognition Among Hypoparathyroid Adults
Hypoparathyroidism is a rare endocrine disorder that leads to hypocalcemia, hypercalciuria, and hyperphosphatemia [1]. Cognitive deficits are frequently reported by hypoparathyroid patients. A common complaint is “brain fog,” with slowed thinking and an inability to perform day-to-day tasks. Yet data regarding objective assessments of cognitive function in hypoparathyroidism are scarce.
Perioperative Management of a Patient With Cushing Disease
Patients with Cushing disease (CD) may present with both chronic and acute perioperative complications that necessitate multidisciplinary care. This review highlights several objectives for these patients before and after transsphenoidal surgery. Preoperative management includes treatment of electrolyte disturbances, cardiovascular comorbidities, prediabetes/diabetes, as well as prophylactic consideration(s) for thromboembolism and infection(s).
Endocrinology
Unexplored Functions of Sex Hormones in Glioblastoma Cancer Stem Cells
Biological sex impacts a wide array of molecular and cellular functions that impact organismal development and can influence disease trajectory in a variety of pathophysiological states. In nonreproductive cancers, epidemiological sex differences have been observed in a series of tumors, and recent work has identified previously unappreciated sex differences in molecular genetics and immune response.
Estrogen Receptor Beta 1: A Potential Therapeutic Target for Female Triple Negative Breast Cancer
Triple-negative breast cancer (TNBC) is an aggressive subtype of breast cancer characterized by the absence of estrogen receptor alpha, progesterone receptor, and HER2. These receptors often serve as targets in breast cancer treatment. As a result, TNBCs are difficult to treat and have a high propensity to metastasize to distant organs. For these reasons, TNBCs are responsible for over 50% of all breast cancer mortalities while only accounting for 15% to 20% of breast cancer cases.
Mitotane Targets Lipid Droplets to Induce Lipolysis in Adrenocortical Carcinoma
Adrenocortical carcinoma (ACC) is a rare aggressive cancer with low overall survival. Adjuvant mitotane improves survival but is limited by poor response rates and resistance. Mitotane’s efficacy is attributed to the accumulation of toxic free cholesterol, predominantly through cholesterol storage inhibition. However, targeting this pathway has proven unsuccessful. We hypothesize that mitotane-induced free-cholesterol accumulation is also mediated through enhanced breakdown of lipid droplets.
Endocrine Reviews
The Congenital and Acquired Mechanisms Implicated in the Etiology of Central Precocious Puberty
The etiology of central precocious puberty (CPP) is multiple and heterogeneous, including congenital and acquired causes that can be associated with structural or functional brain alterations. All causes of CPP culminate in the premature pulsatile secretion of hypothalamic GnRH and, consequently, in the premature reactivation of hypothalamic-pituitary-gonadal axis.
The Changing Face of Turner Syndrome
Turner syndrome (TS) is a condition in females missing the second sex chromosome (45,X) or parts thereof. It is considered a rare genetic condition and is associated with a wide range of clinical stigmata, such as short stature, ovarian dysgenesis, delayed puberty and infertility, congenital malformations, endocrine disorders, including a range of autoimmune conditions and type 2 diabetes, and neurocognitive deficits.
Update on Biology and Genomics of Adrenocortical Carcinomas: Rationale for Emerging Therapies
The adrenal glands are paired endocrine organs that produce steroid hormones and catecholamines required for life. Adrenocortical carcinoma (ACC) is a rare and often fatal cancer of the peripheral domain of the gland, the adrenal cortex. Recent research in adrenal development, homeostasis, and disease have refined our understanding of the cellular and molecular programs controlling cortical growth and renewal
The Journal of Clinical Endocrinology & Metabolism
Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism
Familial isolated hypoparathyroidism (FIH) is an uncommon condition that is associated with mutations in genes that are required for structural or functional integrity of the parathyroid glands. The most common molecular pathology in FIH is related to genetic defects that lead to activation of the calcium-signaling pathway and that inhibit secretion of parathyroid hormone (PTH) from otherwise normal parathyroid glands.
Whom Should We Screen for Cushing Syndrome? The Endocrine Society Practice Guideline Recommendations 2008 Revisited
Cushing syndrome (CS) is a rare condition that is often diagnosed late in the course of disease, often years after the first onset of symptoms. Diagnosis and management of the disease are difficult, as CS is typically characterized (and identified) by the presence of multiple symptoms. Many symptoms, like hypertension, diabetes, weight gain, or osteoporosis, are very common among the general population, whereas others, like purple striae, are quite specific to CS.
Presentation, Management, and Outcomes of Urinary Bladder Paraganglioma: Results From a Multicenter Study
Paragangliomas (PGLs) are rare tumors that originate from extra-adrenal neuroendocrine tissue, with one-third to one-half being located in the thoracoabdominal region. Urinary bladder PGL (UBPGL), a PGL that arises from the paraganglia within the urinary bladder wall, is one of the rarest types of thoracoabdominal PGLs, representing around 0.7% of all PGLs and < 0.05% of all bladder tumors.
