EndoBridge 2024: pearls and highlights.

EndoBridge 2024 was held from October 18-20, 2024, in Antalya, Türkiye. The scientific program of the 12th Annual Meeting of EndoBridge, accredited by the European Council, featured advanced lectures and interactive case discussion sessions in small groups, all delivered by internationally renowned experts in the field. The event attracted a wide range of attendees and offered an extensive overview of key topics in endocrinology and metabolism.

Should anti-Müllerian hormone be a diagnosis criterion for polycystic ovary syndrome? An in-depth review of pros and cons.

Polycystic ovary syndrome (PCOS) is a prevalent endocrine disorder characterized by hyperandrogenism, ovulatory dysfunction, and polycystic ovarian morphology (PCOM). Despite the widespread use of the Rotterdam criteria, challenges in diagnostic accuracy persist. Anti-Müllerian hormone (AMH), a glycoprotein secreted by ovarian follicles, has emerged as a promising biomarker for refining diagnosis due to its strong correlation with follicular count and elevated levels in women with PCOS.

Androgens and Hirsutism in a Large Cohort of Portuguese Women.

: Hirsutism is excessive male-patterned hair in postpubertal women with multifactorial etiology and is an indicator of hyperandrogenism associated with polycystic ovary syndrome (PCOS). Indeed, it can be caused by the enhanced peripheral conversion of androgen precursors to testosterone, as in idiopathic hirsutism (IH). Moreover, hirsutism can be caused by hirsutism-related hyperandrogenic syndromes like non-classic congenital adrenal hyperplasia (NCAH) and idiopathic hyperandrogenism (IHA).

The differential diagnosis of adrenocortical tumors: systematic review of Ki-67 and IGF2 and meta-analysis of Ki-67.

Distinguishing benign from malignant adrenocortical tumors (ACT) is not always easy, particularly for tumors with unclear malignant potential based on the histopathological features comprised of the Weiss score. Previous studies reported the potential utility of immunohistochemistry (IHC) markers to recognize malignancy, in particular the Insulin-like growth factor 2 (IGF2) and the proliferation marker, Ki-67. However, this information was not compiled before.

The Complex Role Played by the Default Mode Network during Sexual Stimulation: A Cluster-Based fMRI Meta-Analysis.

The default mode network (DMN) is a complex network that plays a significant and active role during naturalistic stimulation. Previous studies that have used naturalistic stimuli, such as real-life stories or silent or sonorous films, have found that the information processing involved a complex hierarchical set of brain regions, including the DMN nodes. The DMN is not involved in low-level features and is only associated with high-level content-related incoming information.

EndoBridge 2023: highlights and pearls.

EndoBridge 2023 took place on October 20-22, 2023, in Antalya, Turkey. Accredited by the European Council, the 3-day scientific program of the 11 Annual Meeting of EndoBridge included state-of-the-art lectures and interactive small group discussion sessions incorporating interesting and challenging clinical cases led by globally recognized leaders in the field and was well attended by a highly diverse audience. Following its established format over the years, the program provided a comprehensive update across all aspects of endocrinology and metabolism, including topics in pituitary, thyroid, bone, and adrenal disorders, neuroendocrine tumors, diabetes mellitus, obesity, nutrition, and lipid disorders.

mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice.

The nitric oxide (NO) signaling pathway in hypothalamic neurons plays a key role in the regulation of the secretion of gonadotropin-releasing hormone (GnRH), which is crucial for reproduction. We hypothesized that a disruption of neuronal NO synthase (NOS1) activity underlies some forms of hypogonadotropic hypogonadism. Whole-exome sequencing was performed on a cohort of 341 probands with congenital hypogonadotropic hypogonadism to identify ultrarare variants in .

Modulation of Autophagy in Adrenal Tumors.

Adrenal masses are one of the most common tumors in humans. The majority are benign and non-functioning and therefore do not require immediate treatment. In contrast, the rare adrenal malignant tumors are often highly aggressive and with poor prognosis.

Ang-Tie Angiogenic Pathway Is Distinctively Expressed in Benign and Malignant Adrenocortical Tumors.

The differential diagnosis between adrenocortical adenomas (ACAs) and adrenocortical carcinomas (ACCs) relies on unspecific clinical, imaging and histological features, and, so far, no single molecular biomarker has proved to improve diagnostic accuracy. Similarly, prognostic factors have an insufficient capacity to predict the heterogeneity of ACC clinical outcomes, which consequently lead to inadequate treatment strategies. Angiogenesis is a biological process regulated by multiple signaling pathways, including VEGF and the Ang-Tie pathway.

Pheochromocytomas and paragangliomas in von Hippel-Lindau disease: not a needle in a haystack.

Objective: Pheochromocytomas are a hallmark feature of von Hippel-Lindau disease (vHL). To our knowledge, this is the first systematic review with meta-analysis evaluating the frequency of pheochromocytomas and/or paragangliomas (PPGLs) in patients with vHL, as well as among patients with different vHL subtypes.

Design: Systematic review with meta-analysis.

Mineralocorticoid Receptor Antagonists Eplerenone and Spironolactone Modify Adrenal Cortex Morphology and Physiology.

Mineralocorticoid receptor antagonists (MRAs) are a class of anti-hypertensive drugs that act by blocking aldosterone action. The aim of this study was to evaluate whether the MRAs spironolactone and eplerenone influence adrenal cortical physiology and morphology. Spontaneous hypertensive rats (SHR, = 18) and normotensive rats (WKY, = 18) were randomly exposed to a daily dose of spironolactone ( = 6), eplerenone ( = 6), or no drug ( = 6) over 28 days.

Angiogenesis in the Normal Adrenal Fetal Cortex and Adrenocortical Tumors.

Angiogenesis plays an important role in several physiological and pathological processes. Pharmacological angiogenesis modulation has been robustly demonstrated to achieve clinical benefits in several cancers. Adrenocortical carcinomas (ACC) are rare tumors that often have a poor prognosis.

Incomplete Pattern of Steroidogenic Protein Expression in Functioning Adrenocortical Carcinomas.

Autonomous steroid secretion is a common feature of adrenocortical carcinomas (ACC), although not always clinically evident owing to inefficient steroidogenesis with increased release of steroid precursors. Our study aim was to analyze the expression profile of four key proteins involved in the steroidogenesis cascade, in different adrenocortical tumors. Expression of proteins involved in steroidogenesis, namely steroidogenic acute regulatory protein (StAR), 11β-hydroxylase (CYP11B1), aldosterone synthase (CYP11B2) and 17α-hydroxylase (CYP17A1), were analyzed by immunohistochemistry in ACC ( = 14), adenomas presenting with Cushing's syndrome (ACAc) ( = 11) and clinically non-functioning adenomas (ACAn) ( = 15).

Corrigendum: The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency.

[This corrects the article on p. 432 in vol. 10, PMID: 31333583.

Metabolic Perspectives for Non-classical Congenital Adrenal Hyperplasia With Relation to the Classical Form of the Disease.

Non-classical congenital adrenal hyperplasia (NC-CAH) represents mild form of CAH with the prevalence of 0. 6 to 9% in women with androgen excess. Clinical and hormonal findings in females with NC-CAH are overlapping with other hyperandrogenic entities such as polycystic ovary syndrome hence causing difficulties in diagnostic approach.

Androgens in Congenital Adrenal Hyperplasia.

Congenital Adrenal Hyperplasias (CAH) are genetic diseases transmitted in an autosomal recessive way and these diseases affect many aspects of human health. The majority of CAH cases is due to a deficiency in 21-hydroxylase as a result of the existence of mutations in both alleles of the CYP21A2 gene. Since the identification of mild, non-classic forms of this disease, CAH has been recognized to be one of the most common genetic diseases in human beings.

IGF2 role in adrenocortical carcinoma biology.

Purpose: Clinical outcomes of adrenocortical carcinomas (ACC) could be improved by using novel treatment targets based on the recent advances of tumor biology knowledge. Insulin-like growth factor 2 (IGF2) protein expression is usually 8-80 fold higher in ACC when compared to normal adrenal glands (N-AG) or adrenocortical adenomas (ACA), despite the fact that the biological features of high vs. low IGF2 expressing ACC have not yet been well characterized.

The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency.

The deficiency of 21-hydroxylase due to pathogenic variants is a rather frequent disease with serious consequences, going from a real mortality risk to infertility and to milder symptoms, nevertheless important for affecting the patients' self-esteem. In the most severe cases life-threatening adrenal salt wasting crises may occur. Significant morbidity including the possibility of mistaken gender determination, precocious puberty, infertility and growth arrest with consequent short stature may also affect these patients.

Apoptosis regulation in adrenocortical carcinoma.

Apoptosis evading is a hallmark of cancer. Tumor cells are characterized by having an impaired apoptosis signaling, a fact that deregulates the balance between cell death and survival, leading to tumor development, invasion and resistance to treatment. In general, patients with adrenocortical carcinomas (ACC) have an extremely bad prognosis, which is related to disease progression and significant resistance to treatments.

MAPK/ERK pathway inhibition is a promising treatment target for adrenocortical tumors.

Unraveling molecular mechanisms that regulate tumor development and proliferation is of the utmost importance in the quest to decrease the high mortality rate of adrenocortical carcinomas (ACC). Our aim was to evaluate the role of two of the mitogen-activated protein kinase (MAPK) signaling pathways (extracellular signal-regulated protein kinases [ERKs 1/2] and p38) in the adrenocortical tumorigenesis, as well as the therapeutic potential of MAPK/ERK inhibition. ERKs 1/2 and p38 activation were evaluated in incidentalomas (INC; n = 10), benign Cushing's syndrome (BCS; n = 12), malignant Cushing's syndrome (MCS; n = 6) and normal adrenal glands (NAG; 8).