Dear Colleagues,
Welcome to another issue of AACE Clinical Case Reports (ACCR)! The current issue includes many interesting and educational case reports to share. We will provide a summary of some of those cases below. For more details, please access ACCR online journal available at https://www.aaceclinicalcasereports.com/
Under the Pituitary-Gonadal-Adrenal Access in this issue, authors described the management challenges in a patient presented with symptomatic primary adrenal insufficiency due to bilateral primary adrenal lymphoma.1 Another case described another endocrine-related adverse effect thought to be related to SARS-CoV-2 infection and/or vaccination. In this particular case, the authors reported a patient with hypophysitis who presented as Diabetes Insipidus after receiving SARS-CoV-2 vaccination.2 An interesting visual vignette described the clinical, imaging, and biochemical manifestations of X-linked adrenoleukodystrphy in a young male patient.3
In the field of Thyroid Disease, authors reported a case of progressively increasing lytic bone lesions on the left parietal region of the skull, a biopsy of which proved the diagnosis of metastatic papillary thyroid cancer and highlighting the significance of early recognition.4
On Diabetes, Lipid, and Metabolism, authors highlighted the importance of evaluating pregnant women with gestational diabetes, as it may rarely present with diabetes ketoacidosis leading to poor fetal and maternal outcomes.5 Further, an interesting 3-case-series reported on the potential complication of prolonged hypoglycemia in infants of mothers with Maturity Onset Diabetes of Youth (MODY) due to pathogenic variant in HNF1A, suggesting that potential link of HNF1A variants causing MODY may also lead to neonatal hypoglycemia.6 This issue also includes an interesting visual vignette of severe abdominal lipohypertrophy due to poor insulin management.7
On Bone and Minerals, authors report an interesting case of diffuse periostitis due to the antifungal (Voriconazole) use leading to skeletal fluorosis, which can lead to diffuse bone pain.8 Another interesting case reported on familial hypocalciuric hypercalcemia (FHH) with multiple family members due to calcium-sensing receptor gene (CASR) sequence variant [missense CASR in exon 3 c.392C>A (p.Ala110Asp)], currently listed under variant of unknow significance (VUS). This case suggests this CASR variant is pathogenic causing FHH.9 Another case of hypercalcemia was also included in this issue; the case discusses the diagnostic challenges and clinical outcome in patient with sever ectopic hyperparathyroidism and osteitis fibrosa cystica due to occult neuroendocrine tumor.10
Finally, a case included in this issue aim to raise attention to the potential side effects of hyperphosphatemic tumoral calcinosis due to Pemigatinib, a fibroblast growth factor receptor (FGFR) 1-3 inhibitor, which blocks the effect of FGF-23 leading to hyperphosphatemia and in this case, tumoral calcinosis. The case suggests some success in treatment with lowering serum phosphate through dietary restriction and/or phosphate binders or even pemigatinib discontinuation.11
ACCR is excited to have received various submission categories other than case reports, small series, and visual vignettes, as we received submission under the new categories of video vignettes and Interpretation of Endocrine Testing. We are also accepting commentaries and letters to the Editor submissions. For detailed description of each category, please refer to “Guide to Authors” link: https://www.elsevier.com/journals/aace-clinical-case-reports/2376-0605/guide-for-authors
As always, I truly appreciate all contributing authors, reviewers, editors, and staff that help improve our journal and create an educational platform to our readers to help best manage our patients.
Thank you again for your interest in ACCR. I welcome all feedback, questions, and comments from our readers. Please feel free to reach us at publications@aace.com.
Warmest regards,
References
- 1.Somasundaram H., Boyer P.-N., Casey J., et al. Primary adrenal lymphoma as a rare cause of primary adrenal insufficiency: challenges in management and a review of the literature. AACE Clin Case Rep. 2022;8(5):199–203. doi: 10.1016/j.aace.2022.05.003. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 2.Ankireddypalli A.R., Chow L.S., Radulescu A., et al. A case of hypophysitis associated with SARS-CoV-2 vaccination. AACE Clin Case Rep. 2022;8(5):204–209. doi: 10.1016/j.aace.2022.06.001. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 3.Esteak T., Chowdhury S., Atiqur-Rahman M., et al. A boy with progressive cognitive impairment and darkening of skin. AACE Clin Case Rep. 2022;8(5):231–232. doi: 10.1016/j.aace.2022.02.006. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 4.Majety P., Parker J.A., Hou R. Papillary thyroid cancer presenting as skull metastasis. AACE Clin Case Rep. 2022;8(5):233–234. doi: 10.1016/j.aace.2022.03.001. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 5.Villavicencio C.A., Franco-Akel A., Belokovskaya R. Diabetic ketoacidosis complicating gestational diabetes mellitus. AACE Clin Case Rep. 2022;8(5):221–223. doi: 10.1016/j.aace.2022.07.002. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 6.Cromer S.J., Sella A.C., Rosenberg E., et al. Report of prolonged neonatal hypoglycemia in 3 infants of mothers with HNF1A maturity-onset diabetes of the youth. AACE Clin Case Rep. 2022;8(5):224–230. doi: 10.1016/j.aace.2022.07.004. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 7.Lee S.H., Rubinova R. Severe abdominal lipohypertrophy due to poor insulin management. AACE Clin Case Rep. 2022;8(5):235–236. doi: 10.1016/j.aace.2022.04.001. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 8.Stefan S., Altork N., Alzedaneen Y., et al. Voriconazole-induced diffuse periostitis. AACE Clin Case Rep. 2022;8(5):191–193. doi: 10.1016/j.aace.2022.05.001. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 9.Bletsis P., Metzger R., Nelson J.A., et al. A Novel missense CASR gene sequence variation resulting in familial hypocalciuric hypercalcemia. AACE Clin Case Rep. 2022;8(5):194–198. doi: 10.1016/j.aace.2022.05.002. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 10.Yazdian A., Minuk J., Hemenway G., et al. Occult pulmonary neuroendocrine tumor causing severe hyperparathyroidism: diagnostic challenges and clinical outcomes. AACE Clin Case Rep. 2022;8(5):210–216. doi: 10.1016/j.aace.2022.06.002. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 11.Puar A., Donegan D., Helft P., et al. Hyperphosphatemic tumoral calcinosis with pemigatinib use. AACE Clin Case Rep. 2022;8(5):217–220. doi: 10.1016/j.aace.2022.07.001. [DOI] [PMC free article] [PubMed] [Google Scholar]