Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive diseases, caused by the various deficiencies of adrenal steroidogenesis enzymes. It includes the following enzymes: 21-hydroxylase (21OH), 11ß-hydroxylase (11ßOH), 17a-hydroxylase (17OH), 3ßhydroxysteroid dehydrogenase type 2 (3ßHSD2), steroidogenic acute regulatory protein (StAR), P450 cholesterol side-chain cleavage (P450scc), and P450 oxidoreductase (POR). 21OH deficiency accounts for about 95% of CAH in most populations, while the incidences of the rare forms of CAH vary with ethnicity and geography. However, for the non-classic type of CAH caused by various enzyme deficiencies, the genotype distribution among different organisms/species still needs more information.
The non-classic type of CAH is typically asymptomatic before the 5th year of age and it's still common for these patients to be mis- or undiagnosed. Non-classic CAH is characterized mainly by primary amenorrhea/oligomenorrhea/anovulatory cycles/infertility and/or sex hormonal disorders. More evidence on the phenotype of non-classic CAH caused by various enzyme deficiencies and novel diagnostic methods should be further discussed by pediatric, gynecological, or reproductive endocrinologists. Given that the incidence of non-classic CAH is greater than that of classic CAH, screening for non-classic CAH should always be considered. As for the non-classic type of CAH caused by the rare enzyme deficiency, the clinical course in adulthood and the long-term consequence for fertility remain unknown, despite a few recent reports of successful pregnancy following Assisted Reproductive Technology (ART) and hormone therapy.
The non-classic type of CAH can influence the patients’ health throughout their life and demands the cooperation of a multidisciplinary team. This Research Topic will provide the reader with current knowledge and updated practices on various aspects of non-classic CAH due to different enzyme deficiencies. There will be a special focus on diagnosis and differential diagnosis, the characteristics of phenotypes, new genotypes and phenotypes, and reproduction.
Original Research, Systematic Reviews, Reviews, Mini Reviews, and Clinical Trial papers on the following sub-topics are welcomed:
• The diagnosis and differential diagnosis of non-classic CAH (novel approaches or lessons learned);
• The characteristics of phenotypes of non-classic CAH;
• The new genotypes and phenotypes of non-classic CAH (case report or case series);
• The clinical management of non-classic CAH (novel approaches or lessons learned);
• The reproduction, especially for patients with rare forms of enzymatic deficiencies.
Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive diseases, caused by the various deficiencies of adrenal steroidogenesis enzymes. It includes the following enzymes: 21-hydroxylase (21OH), 11ß-hydroxylase (11ßOH), 17a-hydroxylase (17OH), 3ßhydroxysteroid dehydrogenase type 2 (3ßHSD2), steroidogenic acute regulatory protein (StAR), P450 cholesterol side-chain cleavage (P450scc), and P450 oxidoreductase (POR). 21OH deficiency accounts for about 95% of CAH in most populations, while the incidences of the rare forms of CAH vary with ethnicity and geography. However, for the non-classic type of CAH caused by various enzyme deficiencies, the genotype distribution among different organisms/species still needs more information.
The non-classic type of CAH is typically asymptomatic before the 5th year of age and it's still common for these patients to be mis- or undiagnosed. Non-classic CAH is characterized mainly by primary amenorrhea/oligomenorrhea/anovulatory cycles/infertility and/or sex hormonal disorders. More evidence on the phenotype of non-classic CAH caused by various enzyme deficiencies and novel diagnostic methods should be further discussed by pediatric, gynecological, or reproductive endocrinologists. Given that the incidence of non-classic CAH is greater than that of classic CAH, screening for non-classic CAH should always be considered. As for the non-classic type of CAH caused by the rare enzyme deficiency, the clinical course in adulthood and the long-term consequence for fertility remain unknown, despite a few recent reports of successful pregnancy following Assisted Reproductive Technology (ART) and hormone therapy.
The non-classic type of CAH can influence the patients’ health throughout their life and demands the cooperation of a multidisciplinary team. This Research Topic will provide the reader with current knowledge and updated practices on various aspects of non-classic CAH due to different enzyme deficiencies. There will be a special focus on diagnosis and differential diagnosis, the characteristics of phenotypes, new genotypes and phenotypes, and reproduction.
Original Research, Systematic Reviews, Reviews, Mini Reviews, and Clinical Trial papers on the following sub-topics are welcomed:
• The diagnosis and differential diagnosis of non-classic CAH (novel approaches or lessons learned);
• The characteristics of phenotypes of non-classic CAH;
• The new genotypes and phenotypes of non-classic CAH (case report or case series);
• The clinical management of non-classic CAH (novel approaches or lessons learned);
• The reproduction, especially for patients with rare forms of enzymatic deficiencies.