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PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.
Analysis of genotype-phenotype interactions strongly supports the contention that patients with CCHS who develop malignant TSNS will harbor either a missense or a frameshift heterozygous mutation of the PHOX2B gene, highlighting the link between congenital malformations and tumor predisposition when a master gene in development is mutated. Expand
Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia.
The overall quality of life in adult women with CAH is affected both by the type of mutation and operative procedure, and indications for clitoroplasty should be restrictive. Expand
Fractures and bone mineral density in adult women with 21-hydroxylase deficiency.
BMD was similar in the two classical forms and had no obvious relationship to genotypes and beta-C-telopeptide was decreased in older patients, suggesting women with CAH have low BMD and increased fracture risk. Expand
Genome-wide association analyses identify variants in developmental genes associated with hypospadias
A genome-wide association study on 1,006 surgery-confirmed hypospadias cases and 5,486 controls from Denmark found 18 genomic regions showed independent association with P < 5 × 10−8, which explains 9% of the liability to developing this condition. Expand
Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency.
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. Expand
Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
No clear evidence of unfavorable cardiovascular risk factors were found but increased fat mass and higher insulin levels were, however, found in patients older than 30 yr, which is a risk marker for future diabetes. Expand
Linkage between cryptorchidism, hypospadias, and GGN repeat length in the androgen receptor gene.
Findings indicate an association between GGN length and the risk of cryptorchidism and penile hypospadias, both conditions considered consequences of low androgenicity. Expand
Maternal and Gestational Risk Factors for Hypospadias
A pregnancy diet lacking meat and fish appears to increase the risk of hypospadias in the offspring, and other risk associations were compatible with a role for placental insufficiency in the etiology of hyPOSpadias. Expand
The valine allele of the V89L polymorphism in the 5-alpha-reductase gene confers a reduced risk for hypospadias.
It is shown that a fully functional 5-alpha-reductase enzyme (homozygous for V89) protects the male urethral development, in accordance with the assumption that functional polymorphisms may play an important role in complex disorders such as hypospadias. Expand
Nordic consensus on treatment of undescended testes
Aim: To reach consensus among specialists from the Nordic countries on the present state‐of‐the‐art in treatment of undescended testicles.