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Familial forms of disorders of sex development may be common if infertility is considered a comorbidity

Overview of attention for article published in BMC Pediatrics, November 2016
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  • Above-average Attention Score compared to outputs of the same age (54th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (56th percentile)

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Title
Familial forms of disorders of sex development may be common if infertility is considered a comorbidity
Published in
BMC Pediatrics, November 2016
DOI 10.1186/s12887-016-0737-0
Pubmed ID
Authors

Raja Brauner, Flavia Picard-Dieval, Henri Lottmann, Sébastien Rouget, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey

Abstract

Families with 46,XY Disorders of Sex Development (DSD) have been reported, but they are considered to be exceptionally rare, with the exception of the familial forms of disorders affecting androgen synthesis or action. The families of some patients with anorchia may include individuals with 46,XY gonadal dysgenesis. We therefore analysed a large series of patients with 46,XY DSD or anorchia for the occurrence in their family of one of these phenotypes and/or ovarian insufficiency and/or infertility and/or cryptorchidism. A retrospective study chart review was performed for 114 patients with 46,XY DSD and 26 patients with 46,XY bilateral anorchia examined at a single institution over a 33 year period. Of the 140 patients, 25 probands with DSD belonged to 21 families and 7 with anorchia belonged to 7 families. Familial forms represent 22% (25/114) of the 46,XY DSD and 27% (7/26) of the anorchia cases. No case had disorders affecting androgen synthesis or action or 5 α-reductase deficiency. The presenting symptom was genital ambiguity (n = 12), hypospadias (n = 11) or discordance between 46,XY karyotyping performed in utero to exclude trisomy and female external genitalia (n = 2) or anorchia (n = 7). Other familial affected individuals presented with DSD and/or premature menopause (4 families) or male infertility (4 families) and/or cryptorchidism. In four families mutations were identified in the genes SRY, NR5A1, GATA4 and FOG2/ZFPM2. Surgery discovered dysgerminoma or gonadoblastoma in two cases with gonadal dysgenesis. This study reveals a surprisingly high frequency of familial forms of 46,XY DSD and anorchia when premature menopause or male factor infertility are included. It also demonstrates the variability of the expression of the phenotype within the families. It highlights the need to the physician to take a full family history including fertility status. This could be important to identify familial cases, understand modes of transmission of the phenotype and eventually understand the genetic factors that are involved.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 57 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 57 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 8 14%
Student > Ph. D. Student 7 12%
Researcher 6 11%
Student > Bachelor 5 9%
Student > Postgraduate 5 9%
Other 10 18%
Unknown 16 28%
Readers by discipline Count As %
Medicine and Dentistry 17 30%
Biochemistry, Genetics and Molecular Biology 8 14%
Agricultural and Biological Sciences 5 9%
Nursing and Health Professions 1 2%
Mathematics 1 2%
Other 5 9%
Unknown 20 35%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 27 April 2018.
All research outputs
#7,554,540
of 23,045,021 outputs
Outputs from BMC Pediatrics
#1,404
of 3,042 outputs
Outputs of similar age
#138,668
of 417,589 outputs
Outputs of similar age from BMC Pediatrics
#19
of 44 outputs
Altmetric has tracked 23,045,021 research outputs across all sources so far. This one is in the 44th percentile – i.e., 44% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,042 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.8. This one has gotten more attention than average, scoring higher than 50% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 417,589 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 54% of its contemporaries.
We're also able to compare this research output to 44 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 56% of its contemporaries.