Alexandra M. Dumitrescu, MD

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