A retrospective population-based cohort study to evaluate the impact of an older sibling with undescended testis and hypospadias on the known maternal and fetal risk factors for undescended testis and hypospadias in Ontario, Canada, 1997–2007

Davé, Sumit; Liu, K.; Clark, Roderick; Garg, Amit X.; Shariff, Salimah Z.

doi:10.1016/j.jpurol.2018.09.021

Cited by 6 publications

(2 citation statements)

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“…If this relative 5α-reductase deficiency preexists in utero, it may explain why mild syndromes of undermasculinization (e.g. cryptorchidism and hypospadias) are more often seen in prematurely born boys (42)(43)(44)(45).…”

Section: Discussionmentioning

confidence: 99%

The Androgen Metabolome of Preterm Infants Reflects Fetal Adrenal Gland Involution

Flueck

Kuiri-Hänninen

Silvennoinen

et al. 2022

The Journal of Clinical Endocrinology &Amp; Metabolism

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Context The human adrenal cortex changes with fetal-neonatal transition from the fetal to the adult organ, accompanied by changes in the steroid metabolome. Objective As it is unclear how the observed developmental changes differ between preterm and full-term neonates, we investigated whether the involution of the fetal adrenals is following a fixed time course related to postmenstrual age or whether it is triggered by birth. Furthermore, the fetal and postnatal androgen metabolome of preterm infants was characterized in comparison to term babies. Design Prospective, longitudinal, two centre study collecting spot urines of preterm and term infants during the first 12-18 months of life. Methods Steroid metabolites were measured from spot urines by gas chromatography-mass spectrometry. Data relating were modelled according to established pre- and postnatal pathways. Results Fetal adrenal involution occurs around term-equivalent age in preterm infants and is not triggered by premature birth. Testosterone levels are higher in preterm infants at birth and decline slower till term compared to full-term babies. Dihydrotestosterone levels and the activity of the classic androgen biosynthesis pathway are lower in premature infants as is 5α-reductase activity. No difference was found in the activity of the alternate backdoor pathway for androgen synthesis. Conclusions Human adrenal involution follows a strict timing that is not affected by premature birth. By contrast, prematurity is associated with an altered androgen metabolome after birth. Whether this reflects altered androgen biosynthesis in utero remains to be investigated.

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Section: Discussionmentioning

confidence: 99%

The Androgen Metabolome of Preterm Infants Reflects Fetal Adrenal Gland Involution

Flueck

Kuiri-Hänninen

Silvennoinen

et al. 2022

The Journal of Clinical Endocrinology &Amp; Metabolism

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“…The remainder have structural or numerical abnormalities in their sex chromosomes (Rodie et al., 2011 ). The etiology of DSD includes genetic factors, environmental factors, and combinations of the two (Arboleda et al., 2014 ; Bouty et al., 2015 ; Dave et al., 2019 ). To date, over 40 distinct phenotypes and more than 60 genes associated with DSD have been reported, indicating a significant clinical and genetic heterogeneity of the disease (Parivesh et al., 2019 ; Tenenbaum‐Rakover et al., 2021 ).…”

Section: Introductionmentioning

confidence: 99%

Identification and functional analysis of a rare variant of gene DHX37 in a patient with 46,XY disorders of sex development

Jiang,

Yu,

Mao

et al. 2024

Molec Gen & Gen Med

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Background46,XY sex reversal 11 (SRXY11) [OMIM#273250] is characterized by genital ambiguity that may range from mild male genital defects to gonadal sex reversal in severe cases. DHX37 is an RNA helicase that has recently been reported as a cause of SRXY11. So far, a total of 21 variants in DHX37 have been reported in 58 cases with 46,XY disorders of sex development (DSD).MethodsWhole exome sequencing (WES) was conducted to screen for variations in patients with 46,XY DSD. The subcellular localization of mutant DHX37 proteins was detected by immunofluorescence. And the levels of mutant DHX37 proteins were detected via Western blotting.ResultsA novel pathogenic variant of DHX37 was identified in a patient with 46,XY DSD c.2012G > C (p.Arg671Thr). Bioinformatics analysis showed that the protein function of the variant was impaired. Compared with the structure of the wild‐type DHX37 protein, the number of hydrogen bonds and interacting amino acids of the variant protein were changed to varying degrees. In vitro assays revealed that the variant had no significant effect on the intracellular localization of the protein but significantly reduced the expression level of the protein.ConclusionsOur finding further expands the spectrum of the DHX37 variant and could assist in the molecular diagnosis of 46,XY DSD patients.

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Effects of epidemiological risk factors on prognosis in testicular cancer

Demirci

Başar²

2022

Int Urol Nephrol

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A retrospective population-based cohort study to evaluate the impact of an older sibling with undescended testis and hypospadias on the known maternal and fetal risk factors for undescended testis and hypospadias in Ontario, Canada, 1997–2007

Cited by 6 publications

References 30 publications

The Androgen Metabolome of Preterm Infants Reflects Fetal Adrenal Gland Involution

The Androgen Metabolome of Preterm Infants Reflects Fetal Adrenal Gland Involution

Identification and functional analysis of a rare variant of gene DHX37 in a patient with 46,XY disorders of sex development

Effects of epidemiological risk factors on prognosis in testicular cancer

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