Endocrine Abstracts

Introduction: Hashimoto thyroiditis (HT; with anti-thyroid peroxidase antibodies (TPOAb)) and Graves’ disease (GD; with TSH receptor antibodies (TRAbs)) are frequent autoimmune disorders responsible for thyroid dysfunction. There are two types of TRAbs, the ones that stimulate the thyroid (TSAb) causing Graves’ hyperthyroidism and those that block thyrotropin action (TBAb) being occasionally responsible for hypothyroidism. Unusual patients switch from TSAb to TBAb (o...

We describe the case of a 69-year-old woman with bilateral adrenal incidentalomas identified in CT-scan: on the right, a 57 mm heterogeneous mass with <10 Hounsfield units(HU) with absolute washout of 16%; on the left a 13 mm mass with 35UH, intense contrast enhancement but washout of 66%. She had a recent onset of diabetes, hypertension, androgenic alopecia and facial hair. The systolic blood pressure remained persistently >160 mmHg despite receiving four antihyperten...

Introduction: Pheochromocytomas are rare neuroendocrine tumors whose malignancy is defined by the presence of metastases that may appear several years later. The appropriate follow-up time remains uncertain.Clinical Case: We present the case of a woman with a history of pheochromocytoma who underwent complete resection at 48 years old. The genetic evaluation was negative for mutations on RET, VHL, SDHB or SDHD genes. At 66 years old, a thoracic vertebral...

Introduction: The effects of long-term replacement therapy of primary adrenal insufficiency (PAI) are still a matter of debate. Glucocorticoid (GC) replacement regimens do not completely mimic the endogenous hormonal production and their monitoring is sometimes difficult. Therefore, some patients are exposed to mild GC excess with potential complications, such as hypertension, diabetes, and skeletal fragility. Data on bone mineral density (BMD) in PAI is still scarce and contr...

Introduction: Pseudohypoparathyroidism is a heterogeneous disease characterized by hypocalcemia, hyperphosphatemia and parathyroid hormone resistance. The distinct pseudohypoparathyroidism types are distinguished by physical features, the coexistence of other hormone resistances and genetic defects. Pseudohypoparathyroidism type Ib is more often associated with sporadic cases, unlike others types.Clinical Case: Male, born in France, diagnosed with pseudo...

Introduction: The Dandy-Walker complex (DW) comprises a rare intracranial malformation of the posterior fossa and multiple organ anomalies. The association with endocrine pathology is rare - described in isolated cases (Kallman syndrome, primary hypothyroidism (PH) and central precocious puberty). Noonan syndrome (NS) is a genetic disease usually diagnosed at birth, with variable phenotype. Most cases have AD transmission, with the PTPN11 gene mutation responsible for 50%....

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: The clinical and biochemical spectrum of pituitary acromegaly is wide and variable. There are pure somatotroph tumors(ST), immunohistochemically positive only for GH, and pluri-hormonal(PL), also positive for other hormones, and they appear to have different presentations and responses to treatment.Aims: To compare the clinical presentation, imaging characteristics and response to treatment of acromegalic patients according to the pituitary...

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 ...