Artur Beke
Artur Beke
Nowadays, women's family planning intentions are postponed, and it is common that only later will the conditions be created for the woman to have children. Fortunately, in most cases, pregnancy is possible in this case, taking into account ...
Csilla Krausz,Antoni Riera-Escamilla
Csilla Krausz
Male infertility is a multifactorial and heterogeneous pathological condition affecting 7% of the general male population. The genetic landscape of male infertility is highly complex as semen and testis histological phenotypes are extremely...
Nephrogenic Diabetes Insipidus [0.03%]
肾性尿崩症
András Balla,László Hunyady
András Balla
Body fluid homeostasis is essential for normal life. In the maintenance of water balance, the most important factor and regulated process is the excretory function of the kidneys. The kidneys are capable to compensate not only the daily flu...
Jonas Rutishauser,Nicole Beuret,Cristina Prescianotto-Baschong et al.
Jonas Rutishauser et al.
Neurohypophyseal diabetes insipidus (DI) is most often caused by trauma, including operations, and infiltrating processes in the hypothalamic-pituitary region. Irradiation, ischemia, infections, or autoimmunity can also underlie the disease...
Peter Gergics
Peter Gergics
Congenital pituitary hormone deficiency is a disabling condition. It is part of a spectrum of disorders including craniofacial midline developmental defects ranging from holoprosencephaly through septo-optic dysplasia to combined and isolat...
Dóra Török
Dóra Török
Congenital adrenal hyperplasia (CAH) is a group of seven autosomal recessively inherited disorders of various enzymes participating in adrenal steroid hormone synthesis. Patients present with various symptoms depending on the nature and sev...
Lucie S Meyer,Martin Reincke,Tracy Ann Williams
Lucie S Meyer
The overwhelming majority of cases of primary aldosteronism (PA) occur sporadically due to a unilateral aldosterone-producing adenoma (APA) or bilateral idiopathic adrenal hyperplasia. Familial forms of PA are rare with four subtypes define...
Paul Benjamin Loughrey,Márta Korbonits
Paul Benjamin Loughrey
Pituitary tumours are relatively common in the general population. Most often they occur sporadically, with somatic mutations accounting for a significant minority of somatotroph and corticotroph adenomas. Pituitary tumours can also develop...
Diseases Predisposing to Adrenocortical Malignancy (Li-Fraumeni Syndrome, Beckwith-Wiedemann Syndrome, and Carney Complex) [0.03%]
易发生肾上腺皮质恶性肿瘤的疾病(李-佛美尼综合征、贝克威斯-惠德曼综合征和卡内伊综合症)
Anne Jouinot,Jérôme Bertherat
Anne Jouinot
Adrenocortical malignancies can occur in the context of several tumor predisposition syndromes.The Carney complex (CNC) is responsible for the majority of primary pigmented nodular adrenal diseases and is more rarely associated with adrenoc...
Hereditary Diseases Predisposing to Pheochromocytoma (VHL, NF-1, Paraganglioma Syndromes, and Novel Genes) [0.03%]
遗传性疾病易患嗜铬细胞瘤(VHL，NF-1，副神经节瘤综合征以及新型基因）
Balázs Sarkadi,Attila Patócs
Balázs Sarkadi
Pheochromocytomas (Pheo) and paragangliomas (PGL) are rare tumors originating from catecholamine-producing chromaffin cells. They occur approximately in 0.1% of patients affected with hypertonia. Pheo/PGL may manifest itself at any age; in ...