Endocrine Abstracts

Introduction: Alemtuzumab is a humanized anti-CD52 monoclonal antibody approved for the treatment of relapsing−remitting multiple sclerosis (RRMS). Through an immune reconstitution mechanism, it leads to thyroid autoimmunity in 35% of cases, with Graves’ disease (GD) being the most common presentation. Alemtuzumab-induced GD exhibits distinctive clinical and immunological features, with rarely reported cases of fluctuating thyroid status with documented both blockin...

Introduction: The treatment of Primary Adrenal Insufficiency involves the chronic use of glucocorticoids. The balance between the dose needed to supply the cortisol deficit and the possible consequences of overtreatment is a challenge. In patients with Addison disease (AD), androgens deficiency is an additional factor for osteoporosis.Objective: To evaluate if there are differences in bone mineral density (BMD) in patients with Addison’s disease ver...

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: 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: Parathyroid carcinoma (PC) is an extremely rare malignancy. A complete surgical excision is often difficult, and persistent/recurrent disease occurs in up to 65% of cases. Progression often leads to symptomatic hypercalcemia, the major contributor to poor quality of life and mortality. Treatment options beyond surgical resection are limited. Denosumab is an approved therapy for refractory hypercalcemia of malignancy, and its use in unresectable PC has been descri...

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: Familial neurohypophyseal diabetes insipidus (FNDI) is a rare form of central diabetes insipidus (CDI) characterized by childhood-onset progressive polydipsia and polyuria due to mutations in the arginine vasopressin-neurophysin II (AVP-NPII) gene.Case description: Two male siblings were referred at 1 month of age to exclude CDI owing to a family history of CDI in the father and paternal grandfather. The proband was the fa...

Introduction: Severe hypercalcemia is defined as a total serum calcium level >14 mg/dl or ionized calcium >10 mg/dl . The most common causes are primary hyperparathyroidism (PHPT) and neoplasms (90% of cases). Vitamin D intoxication is an extremely rare cause. Case Report: A 56-year-old man presented to the emergency department with vomiting, generalized weakness and complaints of imbalance over one week. Upon physical examination, he displayed c...