In Memoriam: Maria Iandolo New, 1928-2024
By
Phyllis W Speiser
Richard J Auchus
Perrin C White
November 11, 2024
Clinical Scorecard: Remembering Maria Iandolo New, 1928-2024
At a Glance
Category Detail
Condition Congenital adrenal hyperplasia (CAH) and other adrenal steroid disorders Key Mechanisms 21-hydroxylase deficiency leading to steroid biosynthesis abnormalities; genetic linkage to HLA complex; genotype-phenotype correlations Target Population Pediatric and adult patients with adrenal steroid disorders, including CAH Care Setting Pediatric endocrinology clinics, research centers, and academic medical institutions
Key Highlights
Pioneered pediatric endocrinology with focus on adrenal cortex disorders, especially CAH due to 21-hydroxylase deficiency Developed immunoassays and dynamic testing protocols to elucidate novel steroid biosynthesis disorders Advanced prenatal glucocorticoid treatment and noninvasive prenatal diagnosis for at-risk pregnancies Guideline-Based Recommendations
Diagnosis
Use detailed clinical and hormonal phenotyping to identify degrees of 21-hydroxylase deficiency Employ immunoassays and dynamic endocrine testing (e.g., dexamethasone suppression, cosyntropin stimulation) for diagnosis Incorporate genetic testing including CYP21A2 genotyping and linkage analysis for precise diagnosis Management
Administer glucocorticoid therapy to manage hormone imbalances in CAH patients Consider prenatal glucocorticoid administration in pregnancies at risk for CAH Provide individualized medication and fluid adjustments during salt-wasting crises Monitoring & Follow-up
Regular clinical and hormonal monitoring to assess treatment efficacy and adjust therapy Long-term follow-up of adult patients for fertility and clinical challenges post-glucocorticoid therapy Risks
Potential for salt-wasting crises requiring urgent management Challenges in fertility and adult health outcomes in CAH patients Risks associated with prenatal glucocorticoid exposure necessitating selective application Patient & Prescribing Data
Children and adults diagnosed with congenital adrenal hyperplasia and related adrenal steroid disorders
Glucocorticoid therapy remains central; prenatal treatment and genetic diagnosis improve outcomes; individualized care critical during acute crises
Clinical Best Practices
Integrate multidisciplinary collaboration and expert consultation for complex adrenal disorders Employ detailed phenotyping combined with advanced genetic testing for accurate diagnosis Provide compassionate, patient-centered care including bedside management during acute episodes Establish fellowship and training programs to mentor future leaders in pediatric endocrinology Utilize international collaborations to enhance understanding and treatment of rare adrenal diseases References
