Endocrine Abstracts

Thyroid hormone resistance syndrome(THRS) occurs in 1:40000 live births and can be diagnosed after a period of enigmatic changes in thyroid hormones(TH). Patients may be clinically euthyroid, have clinical hypo or hyperthyroidism. Mostly, it is an autosomal dominant disease due to germline mutations in THRβ-gene(exons 7-10). Resistance to peripheral action of TH leads to absence of TSH suppression (which can be normal/elevated) despite elevated fT4 and fT3.<p class="a...

Introduction: Testosterone-based gender-affirming hormone therapy (GAHT) may have negative consequences on cardiovascular risk, with reported increased blood pressure, decreased HDL-cholesterol, and weight gain. Still, data on cardiometabolic changes in transgender men on GAHT remain controversial. Testosterone-based GAHT also modifies body composition and lean muscle mass, but the degree to which affects serum creatinine and other measures of kidney function is still not clea...

Introduction: Congenital adrenal hyperplasia (CAH) is a genetic condition which impairs enzymatic steroidogenesis of the adrenal cortex, leading to excessive androgen production. CAH phenotype is heterogeneous. In the mildest forms, it can present with hirsutism, acne and menstrual irregularities. Problems related to gender identification arise in about 5% of people with CAH with a 46,XX karyotype.Objective: We present the case of a young female-to-male ...

Introduction: Only <1% of cases of primary hyperparathyroidism (PHPT) occur during pregnancy. PHPT increases risk of complications such as miscarriage, premature birth and life-threatening maternal hypercalcemic crises. Hyperparathyroidism Jaw Tumor Syndrome (HPT-JT) is a rare inherited cause of PHPT, resulting from CDC73 gene mutations. There are a few reports described about HPT-JT in pregnancy. Although parathyroidectomy is the definite treatment for PHPT, given the sca...