Endocrine Abstracts

Introduction: Adrenocortical carcinoma (ACC) is a rare endocrine malignancy arising from the adrenal cortex often with unexpected biological behavior. It can occur at any age, with two peaks of incidence: in the first and between fifth and seventh decades of life. Although ACC are mostly hormonally active, precursors and metabolites may be also produced by dedifferentiated and immature malignant cells.Case report: We report a rare and challenging case of...

Introduction: Autosomal Dominant Hypocalcemia (ADH) presents with low calcium and high phosphorus levels due to hypoparathyroidism. It is categorized into type 1, resulting from gain-of-function mutations in the calcium-sensing receptor (CASR), and type 2, caused by activating mutations in GNA11, a key mediator in CASR signaling. Our contribution involves reporting a rare case of pediatric ADH 2.Case presentation: We present the case of a 9-year-old boy ...

Introduction: Turner syndrome (TS) is a chromosomal disorder that arises due to the complete or partial loss of one sex chromosome, impacting approximately 1 in every 2500 to 3000 female births. The phenotype is attributed to haploinsufficiency of genes on the X chromosome, which are resistant to inactivation. Virilizing symptoms appearing in a patient with TS advocates for an endocrine assessment and karyotyping to ascertain the virilization’s etiology, enabling prompt i...

Introduction: Western countries present a gradual decline in male reproductive function. The decline in testosterone levels and sperm production witnessed over the past five decades, has been ascribed to environmental factors and unhealthy behaviors. Substance and drug usage is recognized as a detrimental lifestyle choice, that can interfere with the processes of steroidogenesis and spermatogenesis. Hypogonadism due to substance and drug abuse can be reversible.<p class="a...

Introduction: Multiple endocrine neoplasia type 2A is an autosomal dominant disorder, caused by mutations in the RET proto-oncogene. The genetic testing may help us in the early identification of carriers, and it can guide us on the follow-up and on the treatment. Thus, we can significantly reduce the morbidity and mortality of this syndrome. We will illustrate a case and highlight the importance of follow-up in a MEN2A patient.Case report: A 41-year-old...