Alexandra M. Dumitrescu, MD, PhD, is an endocrinologist who specializes in the diagnosis and treatment of thyroid diseases.
Dr. Dumitrescu's research focuses on identifying inherited genetic mutations that may cause thyroid diseases. She has worked closely with Dr. Refetoff, MD, a world-renowned expert in genetic diseases of the thyroid.
An accomplished author, Dr. Dumitrescu has contributed to several leading textbooks on thyroid diseases and frequently is invited to present her work at national and international conferences. She is an ad hoc reviewer for several scientific journals and serves on the editorial board of the Journal of Molecular Endocrinology of the European Society of Endocrinology.
Combined Levothyroxine and Propylthiouracil Treatment in Children with Monocarboxylate Transporter 8 Deficiency: A Multicenter Case Series of 12 Patients.
Combined Levothyroxine and Propylthiouracil Treatment in Children with Monocarboxylate Transporter 8 Deficiency: A Multicenter Case Series of 12 Patients. Thyroid. 2024 Nov; 34(11):1435-1443.
PMID: 39283825
Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.
Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency. Genet Med. 2024 Dec; 26(12):101280.
PMID: 39315526
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179.
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179. Nat Genet. 2024 May; 56(5):877-888.
PMID: 38714869
Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome.
Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome. JCI Insight. 2024 Feb 20; 9(7).
PMID: 38376950
Effect of the Fetal THRB Genotype on the Placenta.
Effect of the Fetal THRB Genotype on the Placenta. J Clin Endocrinol Metab. 2023 09 18; 108(10):e944-e948.
PMID: 37149816
The Relationship Between Fetal THRB Genotype and Maternal Thyroid Function.
The Relationship Between Fetal THRB Genotype and Maternal Thyroid Function. Thyroid. 2023 10; 33(10):1255-1258.
PMID: 37597194
Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C).
Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C). Thyroid. 2023 02; 33(2):261-266.
PMID: 36633921
Year in Thyroidology: Basic Science.
Year in Thyroidology: Basic Science. Thyroid. 2023 01; 33(1):16-20.
PMID: 36465054
Graves' disease and papillary thyroid carcinoma: case report and literature review of a single academic center.
Graves' disease and papillary thyroid carcinoma: case report and literature review of a single academic center. BMC Endocr Disord. 2022 Aug 09; 22(1):199.
PMID: 35945543
A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism.
A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism. Thyroid. 2022 08; 32(8):1000-1002.
PMID: 35611983