Publications by authors named "C Norrby"

Article Synopsis
  • - Polydactyly, which refers to having extra fingers or toes, has been linked to some cancer predisposition syndromes, but the actual cancer risk in people with polydactyly is not well understood.
  • - A study analyzing data from over 6,600 individuals in Sweden found that those with polydactyly, particularly polydactyly+ (which includes additional birth defects), have a significantly increased risk of developing childhood and young adult cancers, especially kidney cancer and leukemia.
  • - The findings revealed that males with polydactyly+ had the highest cancer risk, and this association persisted even after accounting for other known cancer predisposition syndromes.
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Background: Fertility in men with hypospadias may be affected due to anatomical, surgical, or etiological factors and associated conditions. Fertility is further influenced by psychosocial and genetic factors, often shared within families.

Objective: To evaluate fertility in men born with hypospadias and assess confounding by familial factors.

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Context: Congenital adrenal hyperplasia (CAH) is a common monogenic recessive disorder. It has been suggested that CYP21A2 deficiency is common because carriers may have a survival advantage, 1 in 15,000 in most populations. Carriers of CYP21A2 mutations typically do not have clinical symptoms but have a defined phenotype with a more prompt cortisol response to ACTH.

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Context: Fertility in males with 21-hydroxylase deficiency (21OHD) is unclear.

Objective: Study fertility outcome in males with congenital adrenal hyperplasia.

Design, Setting, And Participants: Males ≥15 years old with 21OHD (n = 221) were compared with controls matched for sex and year and place of birth (n = 22,024).

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In this nationwide matched cohort study, we have investigated whether being born with hypospadias affect subsequent psychosocial outcomes in adulthood. We analyzed prospectively collected data from national Swedish registers. Data on the diagnoses were collected from the National Patient Register and the Medical Birth Register.

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