Endocrine Abstracts

IntroductionPrader-Willi syndrome (PWS) is a multisystemic genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. Despite PWS present manifestations from birth, affected individuals can remain undiagnosed until adulthood.Clinical caseWoman, 40 years old, with cognitive impairment, referred to endocrinology due to morbid obesity (BMI 44.5 Kg/m2</s...

Introduction: Primary thyroid lymphoma is rare and accounts for less than 5% of all thyroid malignancies. The risk is almost 60 times higher in those with thyroiditis and is more common in females, with a ratio of 4:1. The most frequent local symptom is a rapidly enlarging thyroid gland along with the resultant obstructive symptoms. Fine needle aspiration is the initial diagnostic procedure for thyroid tissue sampling. The main differential diagnosis is anaplastic thyroid carc...

Introduction: There are several endocrine causes of hyponatremia. SIADH is perhaps the most challenging, as patients do not always respond to initial correction measures and pharmacological treatment options are scarce. Urea is a viable option, but not commonly used.Methods: Analysis of patients with SIADH-induced hyponatremia (<135mEq/l) treated with urea per os in the Portuguese Institute of Oncology of Porto between August 2021 and Octobe...

Introduction: Nonislet cell tumour hypoglycemia (NICTH) is a rare complication of malignancy. The most common cause is overproduction of IGF2, which activates insulin receptors, resulting in hypoinsulinemic hypoglycemia. When a solitary fibrous tumor is responsible, it is called Doege-Potter syndrome.Case 1: 58-year-old woman, with a history of gastrointestinal stromal tumor and pleural solitary fibrous tumor with pulmonary and lymph node metastases. She...

Introduction: Bilateral adrenal masses may appear in the context of metastatic disease, adrenal congenital hyperplasia, primary tumors or infections, among others. Primary adrenal lymphoma is rare, accounting for approximately 1% of cases of non-Hodgkin lymphoma. Clinical case: 47-year-old woman, with a history of erythema nodosum and left hemithyroidectomy in the context of benign nodular disease. She presented with persistent fever and tiredne...

Introduction: Hypopituitarism is a rare diagnosis that is mainly due to primary pituitary neoplasms and their treatment. There are rarer causes such as hemorrhage/ischemia, traumatic brain injury, infections and infiltrative lesions. Clinical case: We herein present an 18-year-old male patient diagnosed with acute promyelocytic leukemia at the age of 14, with no evidence of central nervous system invasion in several lumbar punctures during his follow-up....

Turner’s Syndrome is one of the most common chromosomal abnormalities found in 1 in 2500 live female births. Y chromosome material is detected in up to 6% of patients by karyotype, but with new technologies (DNA analysis), Y chrmosome sequences have been reported in 60% of patients. The presence of Y material has been associated with virilization and with the development of gonadal neoplasia.Aim: Determine the frequency of Y chromosome sequences in ...

Objectives: To evaluate changes in gonadotrophins, total (TT) and free (FT) testosterone, SHBG, insulin and c-peptide levels during weight lost after bariatric surgery.Material and methods: Seven (n=7) patients submitted to bariatric surgery for treatment of severe obesity were followed-up over time. Before surgery mean age was 32,857 (19-56) years old, mean weight was 170,571 kg (± 37,362) and mean BMI was 58,824 kg per m2(± 14,...

Background: Klinefelter syndrome is the most common sex chromosome abnormality causing primary hypogonadism and affects approximately 1 to 2.5 per 1000 males. However, other rarer sex chromosomal abnormalities have been associated to testicular dysfunction.Clinical Case: A thirteen-year-old male was referenced to Pediatric consultation due to obesity starting around age four. Perinatal background: maternal gestational diabetes controlled with diet and 10...

Introduction: The prevalence of Transgender individuals seeking gender affirming hormone therapy (GAHT) has been increasing. This therapy has been known to be highly effective in the treatment of gender dysphoria and enhancing mental health in this population.Aim: To evaluate the overall impact of GAHT on self-esteem, well-being and social/familial relations in the Portuguese adult transgender populationMethods: Cross-sectional stu...