Endocrine Abstracts

The identification of naturally occurring genetic mutations has provided unique insight into the current knowledge of the human hypothalamic–pituitary–gonadal axis. In the last 5 years, several loss-of-function mutations in the G-protein coupled receptor 54 (GPR54) gene have been shown to cause isolated hypogonadotropic hypogonadism. Although these mutations are not a common cause of hypogonadotropic hypogonadism, patients bearing mutations are critical to explore ge...

The human pubertal development is a very complex biological process that can be influenced by multiple factors including the genetic ones. A growing list of genes has been implicated in the pathogenesis of the congenital isolated hypogonadotropin hypogonadism (IHH) pointing to the complexity of the genetic basis of this condition. These genes encode peptides, which are involved in the development and migration of GnRH neurons or in regulation of synthesis, secretion and action...

Eneboparatide (AZP-3601) is a novel, synthetic, 36-amino-acid peptide agonist of the parathyroid hormone type 1 receptor (PTHR1), with potent selectivity for the R0 conformation. This results in prolonged calcemic responses, while having a short circulating half-life. Eneboparatide is being developed for the treatment of chronic hypoparathyroidism (cHP). Studies in hypoparathyroid animal models and, most recently, in hypoparathyroid patients, have demonstrated that eneboparati...

Abstract: Congenital hypogonadotropic hypogonadism (CHH) is characterized by isolated GnRH deficiency in the absence of central anatomical causes. Classically considered to be a permanent disorder, CHH reversal has been reported in up to 15% of cases. However, reversal may not always be life-long, as hypogonadism relapse can occur in a subset of patients. Criteria for reversal normalization of circulating sex steroids, and spontaneous fertility. We report a 26-yrs-old man, who...

Introduction: Adrenocortical carcinoma (ACC) is a rare and potentially fatal disease in childhood. Complete resection of the tumor and metastasis can improve survival. Case: A 2.6 year-old boy presented isosexual pseudo-precocious puberty at 2.1 years. CT revealed a single nodule in the left adrenal (2 cm) which was resected by adrenalectomy. Histology revealed an adrenocortical tumor (2 cm, 3.0 g, Weiss score 4), ENSAT stage I. Partial regression of the puberty features and n...

Adrenocortical Carcinoma (ACC) is a rare and lethal disease with a poor prognosis. This study aims to share our 41-year experience as a referral center, focusing on identifying risk factors associated with ACC mortality. Our retrospective analysis included a cohort of 150 adult patients with ACC in all stage categories, treated between 1981 and 2022. Tumor hormonal hypersecretion was observed in 78.6% of the patients, and the median age of diagnosis was 40 years. The majority ...

Whilst several key genetic contributors to the phenotype of central precocious puberty (CPP) have been recognized, many familial cases remain without a clear genetic aetiology. Methyl-CpG-binding protein 2 (MECP2) is a chromatin-associated transcriptional regulator, which plays an essential role in neuronal maturation. It is encoded by the MECP2 gene, located at chromosome Xq28, which is highly expressed in brain tissues. Loss-of-function mutations in MECP2 are usually associa...

Introduction: Masses in adrenal topography have been diagnosed frequently due to more available access to radiological imaging. Adrenal incidentalomas occur around 5% to 7% of patients undergoing abdominal imaging mainly over 50 years of age. The HCFMUSP is a complex tertiary center, a national reference to adrenal disorders and since 2006 around 300 adrenalectomies were performed; 8% of them corresponded to undetermined masses in adrenal topography.Obje...

Mkrn3, the maternally imprinted gene encoding the makorin RING-finger protein-3, has recently emerged as putative pubertal repressor, as evidenced by central precocity caused by MKRN3 mutations in humans; yet, the molecular underpinnings of this key regulatory action remain largely unexplored. We report herein that the microRNA, miR-30, with three binding sites in a highly conserved region of its 3’-untranslated region (UTR), operates as repressor of Mkrn3 to control pube...

Context: The role for hormone parameters at adrenal venous sampling (AVS) in predicting clinical and biochemical outcome remains controversial.Objective: To investigate the impact of hormone parameters at AVS under cosyntropin stimulation on lateralization and on complete biochemical and clinical outcome.Methods: We retrospectively evaluated 168 sequential AVS under cosyntropin infusion. Bilateral successful cannulation rate was 83...