Endocrine profiling in patients with Fanconi anemia, homozygous for a FANCG founder mutation.
Bronwyn DillonCandice FebenDavid SegalJohannes du PlessisDavid ReyndersRosalind WainwrightJanet PooleAmanda KrausePublished in: Molecular genetics & genomic medicine (2020)
Endocrine abnormalities occur at a high frequency in patients with FA, homozygous for a FANCG founder mutation, similar to other FA cohorts. Our data are specific to FA patients with a single genotype, and therefore provide the first genotype-phenotype information on endocrine abnormalities in South African patients, homozygous for a FANCG founder mutation. Recommendations regarding endocrine screening in this patient subgroup are made, including, but not limited to, baseline testing of thyroid function, fasted insulin and glucose, and IGF-1 and IGFBP-3.
Keyphrases
- high frequency
- end stage renal disease
- chronic kidney disease
- transcranial magnetic stimulation
- type diabetes
- ejection fraction
- newly diagnosed
- peritoneal dialysis
- randomized controlled trial
- clinical trial
- electronic health record
- machine learning
- patient reported outcomes
- metabolic syndrome
- blood pressure
- weight loss
- insulin resistance
- open label
- phase iii
- double blind