How has genetics changed the diagnosis and care of multiple endocrine neoplasia type 2? The merits and pitfalls of a genetic-based diagnostic and therapeutic approach [0.03%]
遗传学对2型多发性内分泌肿瘤的诊断和治疗有何影响？基于基因的诊断和治疗方法的优势与陷阱
Frederic Castinetti,Nicolas Sahakian,Pauline Romanet
Frederic Castinetti
The discovery of RET as the primary driver of hereditary medullary thyroid cancer in multiple endocrine neoplasia syndrome drastically changed the diagnosis, management, and prognosis of patients with this rare endocrine tumor. First, from ...
Genetic dyslipidemias [0.03%]
遗传性脂质异常症
Bruno Vergès
Bruno Vergès
Although genetic factors strongly influence lipid metabolism, genetic dyslipidemias refer to specific monogenic defects that significantly alter the function of proteins involved in lipid metabolism. Familial hypercholesterolemia results fr...
May Fayad,Teresa Cosentino,Nicolo&#x; Faedda et al.
May Fayad et al.
Primary aldosteronism (PA) represents the leading cause of secondary hypertension, resulting from autonomous aldosterone production driven in the majority of cases by a lateralized aldosterone‑producing adenoma or by bilateral adrenal hype...
Victor Gravrand,Anne Jouinot,Guillaume Assié
Victor Gravrand
Adrenocortical carcinoma (ACC) is a rare malignancy with limited therapeutic options and poor prognosis in advanced stages. Clinico-pathological markers, such as Ki67 and ENSAT stage remain insufficient to fully predict recurrence or treatm...
Annotating rare variants: a challenge that has not been completely resolved [0.03%]
罕见变异的注释：尚未完全解决的挑战
Snaigune Miskinyte,Clemence Delcour,Rihab Makhlouf et al.
Snaigune Miskinyte et al.
Since the mid-1980s, the combination of clinical research into rare diseases and rapid advances in molecular genetics has led to major breakthroughs in the molecular diagnosis and management of these conditions, which sometimes affect only ...
How has genetics changed the diagnosis and the management of differences of sex development? [0.03%]
遗传学在性发育障碍的诊断和治疗方面起到了什么作用？
Claire Bouvattier,Khadidja Fouatih,Lise Duranteau et al.
Claire Bouvattier et al.
Rare differences of sex development (DSD) encompass all medical situations in which chromosomal sex, gonadal development, or external genitalia are atypical. Genetic investigations of these medical conditions, often diagnosed in the neonata...
HOW GENETICS CHANGED OR WILL CHANGE THE THERAPY IN THYROID NODULES WITH INDETERMINATE CYTOLOGY [0.03%]
遗传学如何改变或将会改变不典型细胞学甲状腺结节的治疗？
Marina Muzza,Carla Colombo,Laura Fugazzola et al.
Marina Muzza et al.
The incidence of thyroid cancer has risen in recent decades, largely due to the widespread use of increasingly sensitive imaging techniques that have enhanced the detection of thyroid nodules. Fine-needle aspiration cytology remains the dia...
Genome‑Wide Association Studies (GWAS) in 2026: from gene hunting to biological discovery in endocrine and cardiometabolic diseases [0.03%]
2026年的全基因组关联研究（GWAS）：从寻找致病基因到内分泌和心血管元性疾病中的生物学发现
Takiy-Eddine Berrandou
Takiy-Eddine Berrandou
Background: Genome-wide association studies (GWAS) emerged with expectations borrowed from Mendelian genetics, creating a gap between what the method can and cannot deliver. This gap has fuelled both unwarranted dismissal...
Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions [0.03%]
基因组新生儿筛查在罕见病管理中的范式转变及其对内分泌疾病的影响
Laurence Faivre,Camille Level,Régis Coutant et al.
Laurence Faivre et al.
Introduction: Genome sequencing (GS) is reshaping newborn screening (NBS) by enabling the early detection of a broader range of rare, treatable and/or actionable disorders. In the context of rapid therapeutic advances, in...
KDM1A pathogenic variants link epigenetic regulation to GIP-dependent Primary Bilateral Macronodular Adrenal Hyperplasia [0.03%]
KDM1A致病性变异体揭示表观遗传调控与胃泌素依赖性的原发性双侧肾上腺多结节性增生之间的联系
Fanny Chasseloup,Peter Kamenicky
Fanny Chasseloup
Patients with primary bilateral macronodular adrenal hyperplasia, recently reclassified as bilateral macronodular adrenal disease (BMAD) have bilateral benign large adrenocortical nodules and variable cortisol excess. BMAD is considered a r...