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Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care
The goal of this update regarding the diagnosis and care of persons with disorders of sex development (DSDs) is to address changes in the clinical approach since the 2005 Consensus Conference, since…
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Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency.
TLDR
Increased gender-atypical behavior in women with CAH that could be correlated to the CYP21A2 genotype speaks in favor of dose-dependent effects of prenatal androgens on the development of higher brain functions.
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Increased Cardiovascular and Metabolic Morbidity in Patients With 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study.
TLDR
CAH was associated with excess cardiovascular and metabolic morbidity but the mechanism is not certain as the glucocorticoids were not assessed and Hypothyroidism and obesity may be an effect of close observation.
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One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study.
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Benefits of Neonatal Screening for Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) in Sweden
TLDR
The main benefits of screening were avoidance of serious salt loss crises, earlier correct gender assignment in virilized girls, and detection of patients who would have otherwise been missed in the neonatal period.
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Cognitive functions in children at risk for congenital adrenal hyperplasia treated prenatally with dexamethasone.
TLDR
Prenatally treated, CAH-affected children performed poorer than controls on tests measuring verbal processing speed, although this difference disappeared when controlling for the child's full-scale IQ.
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Sex-typed toy play behavior correlates with the degree of prenatal androgen exposure assessed by CYP21 genotype in girls with congenital adrenal hyperplasia.
TLDR
The results support the view that prenatal androgen exposure has a direct organizational effect on the human brain to determine certain aspects of sex-typed behavior.
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Population based nationwide study of hypospadias in Sweden, 1973 to 2009: incidence and risk factors.
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Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
TLDR
CAH is a potentially lethal condition and was associated with excess mortality due to adrenal crisis and the SW phenotype also seemed to have worse outcome in children and adults due to adrenaline crisis and not only before the introduction of neonatal screening.
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Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants.
TLDR
It is clear that neonatal screening cannot detect all infants with CAH, and the cutoff level for preterm infants should be much lower, which would result in a number of false-positive tests that the authors consider to be unacceptably high.
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