Congenital adrenal hyperplasia

@article{Merke2005CongenitalAH,
  title={Congenital adrenal hyperplasia},
  author={D. Merke and S. Bornstein},
  journal={The Lancet},
  year={2005},
  volume={365},
  pages={2125-2136}
}
Congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase is a disorder of the adrenal cortex characterised by cortisol deficiency, with or without aldosterone deficiency, and androgen excess. Patients with the most severe form also have abnormalities of the adrenal medulla and epinephrine deficiency. The severe classic form occurs in one in 15,000 births worldwide, and the mild non-classic form is a common cause of hyperandrogenism. Neonatal screening for CAH and gene-specific… Expand
Congenital Adrenal Hyperplasia: Issues in Diagnosis and Treatment in Children
TLDR
Issues related to the diagnosis and management of CAH in children are addressed, including the need to use supraphysiologic doses of glucocorticoids to suppress adrenal androgen synthesis. Expand
Adult Consequences of Congenital Adrenal Hyperplasia
TLDR
It is very important that the adult CAH patient receive regular monitoring by a multidisciplinary team at the secondary- or tertiary-care level, as are optimisation of glucocorticoid replacement and biochemical monitoring tools. Expand
Classical Forms of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Adults
TLDR
The aims here are to review the multiple clinical, hormonal and metabolic abnormalities that could be found in adult CAH patients as such a decrease in bone mineral density, overweight and disturbed reproductive functions. Expand
Approach to the adult with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
  • D. Merke
  • Medicine
  • The Journal of clinical endocrinology and metabolism
  • 2008
TLDR
Treatment of CAH, especially in the adult patient, remains controversial given the lack of prospective randomized controlled trials comparing treatment regimens, Nevertheless, patients benefit from careful individualized therapy with avoidance of Cushingoid side effects and optimization of reproductive, sexual, and bone health. Expand
Congenital adrenal hyperplasia--pharmacologic interventions from the prenatal phase to adulthood.
TLDR
The current pharmacologic treatment options for congenital adrenal hyperplasia are discussed, age dependent dose recommendations are given, and the limitations of current treatment strategies are described. Expand
Hormonal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
TLDR
Patients with congenital adrenal hyperplasia should be carefully followed-up, from childhood through to adulthood, to avoid complications and to ensure treatment compliance and tight control of the adrenal androgens, by multidisciplinary teams who have knowledge of CAH. Expand
Congenital adrenal hyperplasia
TLDR
The clinical features, pathophysiology, molecular genetics, and treatment of 21‐hydroxylase deficiency are reviewed and other steroidogenic enzyme defects that are associated with clinical features due to excessive androgen secretion are discussed. Expand
Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
TLDR
The pathophysiology, clinical picture, genetics and epidemiology of 21-OHD are described, followed by a comprehensive review of the recent advances in diagnosis, treatment and outcome. Expand
MANAGEMENT OF ENDOCRINE DISEASE: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal treatment.
TLDR
The present overview focuses on studies dealing with cardiovascular risk, fertility, treatment and prenatal management in adults with classic CAH to provide the reader with an updated review on this rapidly evolving field of knowledge. Expand
Substitution therapy in adult patients with congenital adrenal hyperplasia.
  • N. Reisch
  • Medicine
  • Best practice & research. Clinical endocrinology & metabolism
  • 2015
TLDR
This article aims to guide physicians on the treatment and monitoring of adult patients with 21OHD, based on the clinical studies available and the own clinical experience. Expand
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