Endocrine Abstracts

Cushing’s syndrome is a rare disorder in children and adolescents. The diagnosis can be a challenge for the clinician, as its principal feature – obesity – is extremely common. We present three cases diagnosed in the last 20 years. The first one was a boy aged 17 that presented in 1984 with central obesity, acne, moon face with plethora, abdominal striae, easy bruising and skin atrophy. The investigations performed consisted in cortisol and ACTH plasma measureme...

Background: Invasive pituitary tumors may behaviour like some pituitary carcinomas. Although invasiveness is not indicative of malignancy, it probably puts the patient at higher risk of developing a pituitary carcinoma. These are very rare and the diagnosis requires evidence of metastatic disease, either cerebrospinal or extracranial. Although de novo development cannot be excluded they usually present as typical pituitary adenomas, which reveal their malignant characte...

Introduction: Nesidioblastosis is a rare but well recognized disorder of persistent hyperinsulinemic hypoglycemia in infancy, but adult-onset nesidioblastosis associated with hyperinsulinemic hypoglycemia, termed noninsulinoma pancreatogenous hypoglycemia syndrome (NIPHS) has also been reported. These patients experience predominantly postprandial hypoglycaemia instead of fasting hypoglycaemia that characterizes insulinoma. Histological findings are islet hypertrophy islet-cel...

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 ...

Familial combined pituitary hormone deficiency can be due to a PROP 1 gene mutation. PROP1 is essential to pituitary morphogenesis. Mutations with inactivation of this gene results in deficiency of GH, PRL, TSH, LH, FSH and in some cases, ACTH.The authors describe an affected family, two sibs, with panhyopituitarism: a 10 years old female, and a 15 years old male, who presented with growth and pubertary development delay. Both children lacked GH, TSH, PR...

Introduction: Pituitary tumors can be classified according to their endocrine function, starting from the clinical phenotype to establish a diagnosis. The histological analysis can confirm the clinical suspicion. A thorough classification is essential in the therapeutic approach with an important influence in the disease-free survival.Case report: We report a case of a 16-year-old male, with loss of visual acuity and headache, attended by an Ophthalmolog...

Introduction: Cushing’s disease (CD) is a Grave disease that requires a multidisciplinary and individualized treatment approach.Case report: We describe the case of a 31-years old female patient with Cushing disease diagnosed in 2007. She initially complained of weight fluctuations, amenorrheia, rounded face with plethora and acne, for 1 year duration. Analytically: 0800 h plasma cortisol of 14 μg/dl (5–25) and 2300 h 15 μg/dl, ACTH 1...

Introduction: Type one diabetes is estimated to account for 1% of the pregnancies complicated by diabetes, associated with an increased risk of maternal and perinatal morbidity. The multidisciplinary follow up of the diabetic women can contribute to an improvement of the glycemic control, minimizing the obstetric and perinatal complications.Aims: To characterize pregnant women with type one diabetes followed in our Department’s Endocrinology/Obstetr...

Introduction: Radiation therapy is an effective treatment for relapsing or recurrent pituitary functioning adenomas, providing tumor volume control and hormone secretion normalization. However, there are several secondary effects to consider.Aims: To assess the efficacy of radiotherapy in the management of patients with acromegaly and Cushing’s disease (CD) treated in our Department, and the prevalence of radiation secondary effects.<p class="ab...

Introduction: Primary hyperparathyroidism is the most common cause for hypercalcemia. Familial benign hypocalciuric hypercalcemia (FBHH) is an unusual autosomal dominant disease. The mutation in the calcium sensing receptor (CaSR) determines a shift to the right in the calcemia set-point that inhibits PTH secretion. Generally asymptomatic, these patients present with mild hypercalcemia and hypophosphatemia, normal or slightly increased PTH levels and hypocalciuria. Daily calci...