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...

Introduction: The simultaneous occurrence of two drug-induced thyroid dysfunctions is rare. We present a case of central hypothyroidism due to bexarotene (BXC), followed by Interferon-α (IFNα)-induced Graves’ disease (GD) thyrotoxicosis after 2 years.Case Report: A 56-year-old man with no prior thyroid disease was diagnosed with cutaneous T-cell lymphoma and commenced treatment with BXC 600 mg/day and IFNα 90 mg/week concurrently. Aft...

Introduction: Screening for gestational diabetes (GD) in the first trimester using fasting plasma glucose (FPG) ≥92 mg/dl is routinely performed in several countries. However, evidence on the benefits and harms of early universal screening, as well as the optimal cut-off of FPG, is conflicting. This results in lack of standardised screening and treatment approaches for GD worldwide.Aims: o compare the use of pharmacological treatment and pregnancy ...

Introduction: Medullary thyroid cancer (MTC) is a rare tumour. Mostly sporadic, 25% are associated with multiple endocrine neoplasia (MEN2A/B) or isolated familial MTC. Surgery is the only curative option: its response is defined as complete (no evidence of biochemical or structural disease), incomplete (only structural response) and persistence of structural disease. We aimed to analyse the clinical and pathological factors associated with the prognosis of MTC.<p class="a...

Introduction: The interaction between obesity and bone metabolism is complex and not fully understood. Historically, higher body weight was considered to be protective against osteoporosis. This association has affected clinical practice: body mass index (BMI) is one of the variables included in Fracture Risk Assessment Tool (FRAX), where a higher BMI leads to a lower fracture risk. Despite this association between bone mineral density (BMD) and body weight, it is not clear wh...

Introduction: Medullary thyroid carcinoma (MTC) arises from thyroid parafollicular C cells and accounts for <5% of thyroid cancers. Nearly 25% occur in the context of multiple endocrine neoplasia type 2 syndrome (MEN2) or familial isolated MTC.Objectives: Evaluation of clinical characteristics and evolution of patients with MTC.Methods: Retrospective analysis of clinical records of patients with MTC diagnosed from 2001 to 2023....