Endocrine Abstracts

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: Sheehan Syndrome (SS) is a cause of hypopituitarism resulting from postpartum pituitary infarction. Its frequency is decreasing worldwide, particularly in developed countries due to advances in obstetric care. Case report: A 50-year-old female patient was admitted to the emergency department with complains of progressive pain in the lower hemithorax and abdomen. She also referred constipation, weight gain and asthenia. The initial laborator...

Introduction: Hypopituitarism is a rare entity that can have different aetiologies. Symptoms are usually progressive and non-specific; therefore, many patients are underdiagnosed and untreated. We present a clinical case of a patient presenting septic shock, hyponatremia and central hypothyroidism.Case report: A 46-year-old man was admitted in ICU for septic shock of unknown origin and multiorgan failure. Hormonal profile showed central hypothyroidism, p...

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: Type 1 diabetes (T1D) is the most frequent children’s endocrinopathy in Portugal. The duration of the disease and metabolic control may affect the final height of pediatric patients. Despite the metabolic advantages of technological advances, such as continuous subcutaneous insulin perfusion (CSII), the effect on growth is unclear.Aim: To assess the impact of T1D treatment, with multiple daily injections (MDI) or CSII, on growth.<p...

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: 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 ...