Medical Progress from The New England Journal of Medicine — Congenital Adrenal Hyperplasia. review article. The new england journal of medicine n engl j med ;8 www. august 21, medical progress. Congenital Adrenal Hyperplasia. Despite impressive advances in treatment and in our understanding of the molecular events that cause congenital adrenal hyperplasia.
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Health status of adults with congenital adrenal hyperplasia: The interrelationship of Sodium balance, plasma renin activity and ACTH in congenital adrenal hyperplasia. In contrast to the virilization of the external genitalia, internal cogenital genitalia, the uterus, fallopian tubes and ovaries, develop normally. One hundred years of congenital adrenal hyperplasia in Sweden: Five enzymatic steps necessary for cortisol production are shown in numbers.
When dexamethasone administration begins as early as the 8th week of gestation, the treatment is blind to the disease status and sex of the fetus. Concurrently, over-treatment should be avoided because it can lead to Cushing syndrome. Infants with renal salt wasting have poor feeding, weight loss, failure to thrive, vomiting, dehydration, hypotension, hyponatremia, and hyperkalemic metabolic acidosis progressing to adrenal crisis azotemia, vascular collapse, shock, and death.
These patients also had lower questionnaire scores in self-perceived scholastic competence and social anxiety . Thus, emergency and critical care personnel must consider the diagnosis in patients presenting in shock.
Congenital adrenal hyperplasia.
Witchel SF and Azziz R. The congenitsl of genital virilization may range from mild clitoral enlargement alone to, in rare cases, a penile urethra Prader V genitalia.
Impaired cortisol synthesis leads to chronic elevations of ACTH via the negative feedback system, causing overstimulation of the adrenal cortex and resulting in hyperplasia and oversecretion of the precursors to the enzymatic defect. Our group has performed prenatal diagnosis in over pregnancies at risk for 21OHD, and 59 affected female fetuses have been treated to term . Anti-androgen treatment may be useful as adjunctive therapy in adult women who continue to have hyperandrogenic signs despite good adrenal suppression.
Finally, long-term outcome studies of newer genital surgery techniques will help guide management across the life span. The advent of genetic testing in the fetus and the affected living patient has made the prenatal diagnosis of CAH more accurate and secure.
Chronic therapy with glucocorticoids at supraphysiologic levels can result in diminished bone accrual and lead to osteopenia and osteoporosis. Diets of older children and adults contain more than enough sodium, obviating the need for supplemental salt.
Seckl JR Prenatal glucocorticoids and long-term programming. Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to hydroxylase deficiency. Abstract Congenital adrenal hyperplasia associated with deficiency of steroid hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group.
Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia. Glucocorticoid and, if necessary, mineralocorticoid replacement, has been the mainstay of treatment for CAH, but new treatment strategies continue to be developed and studied to improve care.
During major life-threatening stress, surgery, or serious illness, patients with CAH require larger or more frequent doses or both of glucocorticoids and additional fluids. Potential diagnosis of CAH must be hyperplasiia-nejm in infants born with ambiguous genitalia. Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma. Females virilized with ambiguous genitalia, males unchanged.
J Pediatr Surg This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits adreanl use, distribution, and reproduction in any medium, provided the original work is properly cited. Algorithm of treatment, diagnosis and decision-making for prenatal treatment of fetuses at risk for hydroxylase deficiency congenital adrenal hyperplasia. It occurs in 1 of everylive births in the general population  and is more common in some populations of North African origin .
Klein R Evidence for and evidence against the existence of a salt-losing hormone.
Congenital adrenal hyperplasia.
Approach to the patient with an adrenal incidentaloma. The development of PCOS in CAH patients is not uncommon and may be related to both prenatal and postnatal excess androgen exposure, which can affect the hypothalamic-pituitary-gonadal axis.
In the Ashkenazi Jewish population, 1 in 3 are carriers of the allele, and 1 in 27 congental affected with the disorder [4, 5, 6].
Advanced somatic and epiphyseal development occurs with rapid growth during arenal. The simplicity of the test and the ease of transporting microfilter paper specimens by mail have facilitated the implementation of CAH newborn screening programs worldwide.
Impaired enzyme function at each step of adrenal cortisol biosynthesis leads to conngenital unique combination of elevated precursors and deficient products. Prenatal treatment of congenital adrenal hyperplasia: False-positive results are, however, common with premature infants .