Create terms 'male with DSD' and 'female with DSD'

[KaylaPenn]

Individuals with congenital physical disorders of sexual development (DSD; the term 'intersex' is more commonly known, but is a misnomer as people with DSD are not between sexes, a third sex or hermaphrodites) are not represented under male [PATO_0000384] or female [PATO_0000383]. These conditions can be valuable classifiers when relevant and are not the same as later changing natal/naturally-developed sexual characteristics (ie, castration [PATO_0002367] or spaying [PATO_0040020]).

Sources: https://www.karger.com/Article/FullText/499274 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5866176/

[shawntanzk]

Hi @KaylaPenn,

thanks for the ticket, we will look into this and try to get the terms added.

@nicolevasilevsky - not sure if you want to handle this? I'm happy to, but it might take me a bit of time to get to this. I'll assign it to myself for now, but if you want to take it please do assign yourself too. Thanks!

[nicolevasilevsky]

I can do it! Thanks @shawntanzk

[nicolevasilevsky]

@KaylaPenn what are the specific terms that you'd like us to add? Could you please share the term label, any synonyms and a suggested definition? Thank you!

[KaylaPenn]

I defer to what you think is best. I suggest the following, but it doesn't translate well for non-animals:

'male with DSD' or 'male, DSD' = an otherwise male individual of a non-hermaphroditic species who has ambiguous or atypical congenital development of the reproductive system

'female with DSD' or 'female, DSD' = an otherwise female individual of a non-hermaphroditic species who has ambiguous or atypical congenital development of the reproductive system

'intersex' could serve as a synonym for both as it's still in popular use, but may be considered offensive when applied to humans. DSD can be expanded multiple ways to 'disorders/differences of sexual development/differentiation'.

Thank you!

-Edited because '...development of genetics, genitals, and/or gonads' had broad, yet also limiting, implications. I was thinking of the 3G model of sex classification

[sbello]

@nicolevasilevsky Scientific American had a graphic out today that may be helpful https://www.scientificamerican.com/article/beyond-xx-and-xy-the-extraordinary-complexity-of-sex-determination/

[nicolevasilevsky]

thanks @KaylaPenn and @sbello. I'll start this on a PR and folks can weigh in. Beautiful graphics in that SA article!

[nicolevasilevsky]

@KaylaPenn do you have an ORCID?

[KaylaPenn]

@KaylaPenn do you have an ORCID?

0000-0001-5193-0062

[KaylaPenn]

Fun fact I learned from someone more knowledgeable: 'dioecious' (mostly applied to plants) and 'gonochoric' (mostly applied to animals) are antonyms for 'hermaphroditic'

[PaulNSchofield]

Best reference for this in the human sense, which is what it was coined to be used for is: Ieuan A. Hughes, Disorders of sex development: a new definition and classification, Best Practice & Research Clinical Endocrinology & Metabolism, Volume 22, Issue 1, 2008, Pages 119-134, ISSN 1521-690X, https://doi.org/10.1016/j.beem.2007.11.001. (https://www.sciencedirect.com/science/article/pii/S1521690X07001054)

[KaylaPenn]

I will not operate this GitHub account after July 20th. Please contact Dr. Ruth Timme (https://github.com/retimme) for any further questions or comments. Thank you.