Frontiers of Hormone Research
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Polycystic ovary syndrome: definitions, phenotypes and diagnostic approach.
Polycystic ovary syndrome (PCOS) constitutes a continuum spectrum of symptoms starting from the early prepubertal years and continuing after menopause. The phenotypic expression varies through time, depending on several internal (e.g. ovarian/adrenal steroidogenesis, insulin resistance) and external...
Pathophysiology of polycystic ovary syndrome: the role of hyperandrogenism.
The cardinal features of polycystic ovary syndrome (PCOS) are hyperandrogenism and oligoanovulation. The increase in ovarian androgen production is a fundamental characteristic of PCOS and, although enigmatic, it is at the heart of one of the major issues about the pathophysiology of PCOS, i.e. whet...
Multiple endocrine neoplasia type 1.
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal-dominant tumor syndrome characterized by the occurrence of tumors in multiple endocrine tissues and nonendocrine tissues. The three main endocrine tissues most frequently affected by tumors are parathyroid (95%), enteropancreatic neuroendocr...
Rarer syndromes characterized by hypogonadotropic hypogonadism.
Hypogonadotropic hypogonadism (HH) secondary to hypothalamic gonadotropin-releasing hormone deficiency is a notable feature of a number of rare syndromes, where unlike idiopathic (isolated) HH, other endocrinopathies may also be apparent. The presence of a particular spectrum of clinical features in...
Pathogenesis of familial acromegaly.
We review the pathogenesis of IFS, from the detection of loss of heterozygosity at chromosome 11q13 and establishment of linkage to this chromosome region to the description of germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene. Approximately 40% of IFS families harbo...
Multiple sources of information for the hypothalamus.
The cross-talk between several parts of the gut and the brain involves the exchange of information that enables an individual to optimize metabolism and to adapt it to potentially huge variations in caloric intake during, e.g. fasting and eating. It also ensures that already parts of the gut downstr...
Hamartoma and lentiginosis syndromes: clinical and molecular aspects.
The classic hamartoma syndromes and the related conditions discussed in this chapter show varying degrees of phenotypic and genetic overlap. Knowledge of the susceptibility genes underlying their phenotypes has provided additional information for the classification of these syndromes. Germline PTEN...
Influence of peptides structurally related to ACTH and MSH on active avoidance behaviour in rats. A structure-activity relationship study.
Estrogens and vitamin B6.