CONGENITAL ADRENAL HYPERPLASIA-NEJM PDF

Fertility problems Cause Congenital adrenal hyperplasia is a genetic disorder. In children with CAH, the gene hydroxylase that makes the enzyme needed to produce cortisol and aldosterone is not working properly. In order for a child to be born with CAH, both parents must be carriers of the mutated gene and pass it on to their baby. CAH caused by hydroxylasse deficiency can affect both boys and girls equally. One in 10, to 18, children are born with classical CAH, while the nonclassical form is much more common.

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Milder degrees of CAH may present in more subtle ways such as isolated clitoromegaly and virilisation in early childhood and are usually not associated with metabolic compromise in the neonatal period.

Antenatally diagnosed case of CAH due to a previously affected sibling Early genetic diagnosis is now available where there is a proband identified in a family.

The affected infant is not unwell in utero and only presents post partum, as described above. Given the autosomal recessive nature of the condition, one in four subsequent pregnancies may be affected, with a one in eight risk of an affected female. Prenatal use of dexamethasone treatment of the mother has been used in the past, to try to reduce virilisation of an affected female fetus but this may have potential adverse effects and is now only used rarely.

Affected female neonates should not be virilised; however, this is not always the case. Investigations Investigation for the common form of CAH 21 hydroxylase deficiency requires demonstration of a raised 17OHP level, the hormone just prior to the enzymatic block. Ideally, assessment of 17OHP levels should be deferred until after day 3 of age.

Chromosome analysis to determine gender- this can be done on day 1. Where it is available a confirmatory urinary steroid profile is extremely useful. This requires collection of at least 20 mL of urine. Elevation in adrenal androgens and ACTH levels may also be helpful, but are usually not measured if the electrolyte pattern and 17OHP levels are normal Note: Preterm infants have significantly higher levels of 17OHP and androgens than term babies.

Care must be taken with interpretation of these levels in the extremely preterm infant who is suspected of having possible genital ambiguity. Management Management issues Gender assignment should be avoided until a clear diagnosis is made.

This usually takes about three days in the virilised infant with a 46XX karyotype. Acute medical management: If the patient is haemodynamically compromised, resuscitation with intravenous normal saline and stress doses hydrocortisone is required.

Consideration for social work and psychological support for a family is most important at this critical point, because the stress of this diagnosis and its lifelong implications is severe. Additional salt 0. Tablets should be ground up between two teaspoons and mixed with a few drops of milk. This solution should be transferred to a small, plastic feeding spoon and deposited on the back of the tongue immediately prior to feeds. Most surgical correction is now delayed until 6 months of age or later.

Opinion currently varies between centres as to surgical management options. There is no cure for CAH, but medications glucocorticoids and mineralocorticoids are effective in managing the condition. They assist in replacing low levels of hormones and suppressing those that are in excess.

More specific management is required during periods of stress and illness.

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CONGENITAL ADRENAL HYPERPLASIA-NEJM PDF

Comprehensive genetic analysis of unrelated families with congenital adrenal hyperplasia due to hydroxylase deficiency. Preimplantation genetic diagnosis at 20 years. Congenital adrenal hyperplasia. No adverse effects such as increased risk for cognitive defects, disorders of gender identity and behavior, sexual function in adulthood, hypertension, diabetes, and osteopenia were found [, ,]. Alan ParsaM.

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Congenital Adrenal Hyperplasia

We have discussed how it requires vigilance to see through the mountains of patients presenting with vomiting due to gastroenteritis to find the one kid with an inborn error of metabolism. Additionally, the super ill appearing neonate often induces VTach in us as well: Is it sepsis? Is it congenital heart disease? Can be so mild that it is clinically unapparent occult.

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