2021
Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions
Kiuchi Z, Reyes M, Hanna P, Sharma A, DeClue T, Olney R, Tebben P, Jüppner H. Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions. The Journal Of Clinical Endocrinology & Metabolism 2021, 107: e681-e687. PMID: 34477200, PMCID: PMC8899049, DOI: 10.1210/clinem/dgab660.Peer-Reviewed Original ResearchConceptsAutosomal dominant pseudohypoparathyroidism type IbSTX16 deletionPseudohypoparathyroidism type IbParathyroid hormoneYears of ageAD-PHP1BDisease-causing variantsFemale carriersMeasurement of parathyroid hormoneGNAS exon A/BPretreatment laboratory resultsElevated PTH levelsParathyroid hormone resistanceParathyroid hormone levelsSerum calcium levelsThyrotropin (TSHType IbExon A/BOvert hypocalcemiaPTH resistancePTH levelsTSH levelsCalcium abnormalitiesPrompt treatmentLoss of methylation
2018
Mild subclinical hypothyroidism is associated with paediatric dyslipidaemia
Dahl A, Iqbal A, Lteif A, Pittock S, Tebben P, Kumar S. Mild subclinical hypothyroidism is associated with paediatric dyslipidaemia. Clinical Endocrinology 2018, 89: 330-335. PMID: 29846957, DOI: 10.1111/cen.13752.Peer-Reviewed Original ResearchConceptsMild subclinical hypothyroidismElevated non-HDL cholesterolSubclinical hypothyroidismEuthyroid childrenElevated total cholesterolAssociated with higher ratesNon-HDL cholesterolTotal cholesterolLipid profilePresence of thyroid autoimmunityRandomized placebo-controlled studyNon-HDL cholesterol levelsAssociated with total cholesterolPlacebo-controlled studyMeasurement of TSHCompare lipid profilesTSH levelsThyroid autoimmunityHigher ratesFree thyroxineCardiometabolic consequencesOdds ratioControlled studiesCholesterol levelsHypothyroidism