Holly Cooper

All Publications

• Mitochondrial HMG-CoA Synthase Deficiency: A Cyclic Vomiting Mimic Without Reliable Biochemical Markers. Journal of investigative medicine high impact case reports Niehaus, A. D., Cooper, H., Lee, C. U. 2024; 12: 23247096241267154

  Abstract

  Here, we report an individual, eventually diagnosed with HMG-CoA synthase deficiency, who presented with a cyclic vomiting phenotype. HMG-CoA synthase deficiency is a rare disorder affecting ketone body synthesis in which affected individuals typically present at a young age with hypoketotic hypoglycemia, lethargy, encephalopathy, and hepatomegaly, usually triggered by catabolism (e.g., infection or prolonged fasting). This individual presented with recurrent episodes of vomiting and lethargy, often associated with hypoglycemia or hyperglycemia, at 3 years of age. Metabolic labs revealed nonspecific abnormalities in her urine organic acids (showing mild elevation of dicarboxylic acids with relatively low excretion of ketones) and a normal acylcarnitine profile. Given her clinical presentation, as well as a normal upper gastrointestinal series, esophagogastroduodenoscopy with biopsies, and abdominal ultrasound, she was diagnosed with cyclic vomiting syndrome at 3 years of age. Molecular testing completed at 7 years of age revealed a previously reported pathogenic sequence variant (c.1016+1G>A) and a novel likely pathogenic deletion (1.57 kB deletion, including exon 1) within HMGCS2 consistent with HMG-CoA synthase deficiency. This individual's presentation, mimicking cyclic vomiting syndrome, widens the clinical spectrum of HMG-CoA synthase deficiency. In addition, this case highlights the importance of molecular genetic testing in such presentations, as this rare disorder lacks specific metabolic markers.

  View details for DOI 10.1177/23247096241267154

  View details for PubMedID 39143735

  View details for PubMedCentralID PMC11325301

• Fertility preservation in transgender and non-binary adolescents and young adults. PloS one Cooper, H. C., Long, J., Aye, T. 2022; 17 (3): e0265043

  Abstract

  Although 37.5-51% of transgender adults state they would've considered freezing gametes before gender-affirming therapy if offered and 24-25.8% of transgender adolescents express interest in having biological children, less than 5% of transgender adolescents have opted for fertility preservation. We sought to assess fertility preservation utilization in our multidisciplinary adolescent gender clinic. We also aimed to identify fertility preservation utilization and interest among non-binary adolescents and young adults. A retrospective review was conducted of patients seen in the Stanford Pediatric & Adolescent Gender Clinic from October 2015 through March 2019 who were >10 years of age at initial visit. All individuals with documented discussion of fertility preservation were offered referral for formal fertility preservation consultation but only 24% of patients accepted. Only 6.8% of individuals subsequently underwent fertility preservation (n = 9). Transfeminine adolescents are more likely to pursue fertility preservation than transmasculine adolescents (p = 0.01). The rate of fertility preservation in non-binary adolescents did not significantly differ from those in transfeminine adolescents (p = 1.00) or transmasculine adolescents (p = 0.31). Although only one non-binary individual underwent fertility preservation, several more expressed interest with 36% accepting referral (n = 4) and 27% being seen in consultation (n = 3). Despite offering fertility preservation with designated members of a gender clinic team, utilization remains low in transgender adolescents. Additionally, non-binary adolescents and their families are interested in fertility preservation and referrals should be offered to these individuals. Further studies and advocacy are required to continue to address fertility needs of transgender adolescents.

  View details for DOI 10.1371/journal.pone.0265043

  View details for PubMedID 35275955

• Gradient washout and secondary nephrogenic diabetes insipidus after brain injury in an infant: a case report. Journal of medical case reports Chang, N., Mariano, K., Ganesan, L., Cooper, H., Kuo, K. 2020; 14 (1): 183

  Abstract

  BACKGROUND: Disorders of water and sodium balance can occur after brain injury. Prolonged polyuria resulting from central diabetes insipidus and cerebral salt wasting complicated by gradient washout and a type of secondary nephrogenic diabetes insipidus, however, has not been described previously, to the best of our knowledge. We report an unusual case of an infant with glioblastoma who, after tumor resection, was treated for concurrent central diabetes insipidus and cerebral salt wasting complicated by secondary nephrogenic diabetes insipidus.CASE PRESENTATION: A 5-month-old Hispanic girl was found to have a large, hemorrhagic, suprasellar glioblastoma causing obstructive hydrocephalus. Prior to mass resection, she developed central diabetes insipidus. Postoperatively, she continued to have central diabetes insipidus and concurrent cerebral salt wasting soon after. She was managed with a vasopressin infusion, sodium supplementation, fludrocortisone, and urine output replacements. Despite resolution of her other major medical issues, she remained in the pediatric intensive care unit for continual and aggressive management of water and sodium derangements. Starting on postoperative day 18, her polyuria began increasing dramatically and did not abate with increasing vasopressin. Nephrology was consulted. Her blood urea nitrogen was undetectable during this time, and it was thought that she may have developed a depletion of inner medullary urea and osmotic gradient: a "gradient washout." Supplemental dietary protein was added to her enteral nutrition, and her fluid intake was decreased. Within 4 days, her blood urea nitrogen increased, and her vasopressin and fluid replacement requirements significantly decreased. She was transitioned soon thereafter to subcutaneous desmopressin and transferred out of the pediatric intensive care unit.CONCLUSIONS: Gradient washout has not been widely reported in humans, although it has been observed in the mammalian kidneys after prolonged polyuria. Although not a problem with aquaporin protein expression or production, gradient washout causes a different type of secondary nephrogenic diabetes insipidus because the absence of a medullary gradient impairs water reabsorption. We report a case of an infant who developed complex water and sodium imbalances after brain injury. Prolonged polyuria resulting from both water and solute diuresis with low enteral protein intake was thought to cause a urea gradient washout and secondary nephrogenic diabetes insipidus. The restriction of fluid replacements and supplementation of enteral protein appeared adequate to restore the renal osmotic gradient and efficacy of vasopressin.

  View details for DOI 10.1186/s13256-020-02536-0

  View details for PubMedID 33036650

• 50 Years Ago in The Journal of Pediatrics: Cortisol Secretion in Acidotic and Nonacidotic Juvenile Diabetes Mellitus. The Journal of pediatrics Cooper, H. C., Maahs, D. M. 2019; 207: 175

  View details for DOI 10.1016/j.jpeds.2018.10.023

  View details for PubMedID 30922491