Congenital adrenal hyperplasia

@article{ElMaouche2017CongenitalAH,
  title={Congenital adrenal hyperplasia},
  author={Diala El-Maouche and Wiebke Arlt and Deborah P. Merke},
  journal={The Lancet},
  year={2017},
  volume={390},
  pages={2194-2210}
}
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387 Citations
Highly Influential Citations
15
Background Citations
73
Methods Citations
3

387 Citations

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency – management and differentiation in adults
TLDR
Patients with classic congenital adrenal hyperplasia experience a wide variety of symptoms, including obesity, hypertension, hyperinsulinaemia, insulin resistance, and hyperleptinaemia; abnormalities, the same as glucocorticosteroid treatment, promote the development of other diseases, such as metabolic syndrome, diabetes mellulitis, cardiovascular diseases and psychosocial problems.
Diagnosis and Management of Congenital Adrenal Hyperplasia in Children and Adults
TLDR
This chapter provides endocrine nurses with a synopsis of the approach, evaluation, and management of patients with CAH, with particular emphasis on providing comprehensive coordinated care that includes patient and family education and the understanding of the physical and psychological consequences of the condition.
[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency--management in adults].
TLDR
The principal goal of treatment in adults with CAH is to improve quality of life, ensure that they remain fertile, reduce the manifestations of hyperandrogenisation in females, and minimise the adverse effects of glucocorticosteroid treatment.
A case of congenital adrenal hyperplasia presenting as adrenal incidentaloma
TLDR
A case of adrenal incidentaloma is presented in a 14-year-old boy who was eventually diagnosed with congenital adrenal hyperplasia due to a 21-hydroxylase deficiency, but survived without continuous glucocorticoid and mineralocortioid treatment.
Congenital Adrenal Hyperplasia, the Origin of Combined Infertility: A CaseReport and a Review of Literature
TLDR
A case report of combined infertility due to mutations in the CYP21A2 gene and a review of literature on this subject are described.
Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
TLDR
In conclusion, early detection using neonatal screening tests and treatment can prevent the worst outcomes of 21-hydroxylase deficiency.
Substitution therapy in adult patients with congenital adrenal hyperplasia.
  • N. Reisch
  • Medicine, Biology
    Best practice & research. Clinical endocrinology & metabolism
  • 2015
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.
Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant
TLDR
Congenital adrenal hyperplasia includes autosomal recessive conditions that affect the adrenal cortex steroidogenic enzymes and proteins, which may be useful for a differential diagnosis in the neonatal period, while contributing to the biochemical evolution taking place in the steroidogenic field.
Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
TLDR
Clinical management of 11 beta-hydroxylase deficiency can pose a challenge to maintain adequate glucocorticoid dosing to suppress adrenal androgen excess while avoiding glucoc Corticoid-induced side effects.
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References

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Growth in congenital adrenal hyperplasia
TLDR
Current evidence suggests that infancy and peripubertal periods are the time periods where heights outcome is most sensitive to glucocorticoid dose, and dose titration to achieve complete androgen suppression and normalization of 17-hydroxyprogesterone is likely to result in overtreatment and consequent growth impairment.
Treatment of congenital adrenal hyperplasia with cortisone.
TLDR
Unsuccessful attempts have been made by us to suppress the secretion of androgen in patients with congenital adrenal hyperplasia by the administration of steroids, such as 17-ethyl testosterone, 17-vinyl testosterone,17-methyl androst...
Partial characterization of urinary adrenocortical steroids in adrenal hyperplasia.
TLDR
The present studies were undertaken to characterize the corticosteroids excreted in the urine in adrenal hyperplasia, in an attempt to define more precisely the specific defect in steroid biosynthesis.
The Treatment of Congenital Adrenal Hyperplasia with Aminoglutethimide
TLDR
Since the advanced ossification is due to synthesis of adrenal androgens, the ideal therapeutic rtgime might be expected to include an antiandrogen to combat their effects, thus allowing the administration of quantities of glucocorticosteroids insufficient to cause growth retardation but adequate for general metabolic requirements.
Further studies on the treatment of congenital adrenal hyperplasia with cortisone. IV. Effect of cortisone and compound B in infants with disturbed electrolyte metabolism.
Three cases of congenital adrenal hyperplasia with disturbed electrolyte metabolism, followed for 14 to 20 months, have been reported in detail. The effects of cortisone (compound E) and…
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TLDR
Information pertaining to a possible genetic etiology of this disease is obtained from 56 families containing one or more affected individuals, and an hormonal study of a group of parents of affected children is conducted.
Linear growth and growth hormonal responsiveness in treated congenital adrenal hyperplasia.
TLDR
An analysis of the growth patterns of 30 children with congenital adrenal hyperplasia treated with cortisone acetate revealed 76% to be at or below the third percentile by age 2 years, consistent with an antagonism by cortis one of the actions of growth hormone at the peripheral level rather than a central inhibition of growth hormones release.
Further studies on the treatment of congenital adrenal hyperplasia with cortisone. I. Comparison of oral and intramuscular administration of cortisone, with a note on the suppressive action of compounds F and B on the adrenal.
TLDR
The administration of cortisone to patients with congenital adrenal hyperplasiacaused markedly decreased excretion of 17-ketosteroids and biologically active androgen and there was a simultaneous decrease in urinary estrogen, presumably derived from the adrenals.
Single dose dexamethasone in treatment of congenital adrenocortical hyperplasia.
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