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‘DSD’, “VDG”, “Intersexuality”? A variant of normal? What are they? - Paper n°11

Writer's picture: La Petite SirèneLa Petite Sirène

Papier de Claudio Rubiliani

Claudio Rubiliani - Honorary Senior Lecturer in Organismal Biology, member of the OPS Management Board
 

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DSDs (Disorders of Sex Development or Differences of Sex Development) mainly correspond to anomalies of genetic or epigenetic origin (i.e. of the in-utero environment) leading to a mismatch between genetic sex and morphological appearance or to ambiguity of sexual morphology. These DSDs correspond to the letter ‘I’ - for intersexuality - in the heterogeneous acronym LGBTQIA+. These DSDs are of biological origin and should therefore be distinguished from sexual orientation and ‘transidentity’, which are not of biological origin.


       But is it possible to establish certain links between DSD, sexual orientation or transidentity? A meta-analysis published in 2021 (1), based on 15 years of case studies in various countries, has attempted to draw up an assessment on this subject.


             International conferences in 2006 and 2018 (2,3) attempted to inventory the great diversity of these DSDs and established a consensus on the multidisciplinary management of these intersexualities. In France, a decree dated 15/11/2022 set the “best practice guidelines for the care of children with variations in genital development.” Thus, national multidisciplinary consultation meetings include at least one pediatric endocrinologist, a pediatric surgeon from one of the reference centers, and at least one geneticist, a legal expert, and a coordinating nurse. The mental health professional responsible for monitoring the child and their family participates in an advisory capacity. The general practitioner or community pediatrician overseeing the child’s routine care is invited. A consultation to announce and present the treatment plan is organized with the child and their parents.


However, as highlighted by Murielle François (4), this type of arrangement is contested by activist “intersex” associations that have previously suffered from medical and surgical treatments deemed inappropriate and traumatic. These groups advocate for a “right to self-determination” for the patient, disregarding the input of multidisciplinary teams and parents. Yet, beyond the physical and psychological dangers of a potential delayed intervention, we now know—especially in the age of so-called social networks—the limits of this “right to self-determination” for children and adolescents, who are easy and prime targets for all forms of mental manipulation.


Regrettably, it appears that European institutions, out of demagoguery and/or ideology, are aligning with this movement of “child self-determination” without fully measuring its consequences (see, for example, the document “Council of Europe Commissioner for Human Rights. Human Rights of Intersex People. April 2015, revised June 2017). At the same time, the tendency of these same institutions to give credence to “gender theory” further validates the concept of “neutral sex,” which has already been adopted by certain countries. As Murielle François points out: “This erasure maneuver risks contributing to plunging [DSDs] into an identity blur—the very same that causes so much suffering for intersex individuals… This will potentially result, among other things, in an increase in cases of gender dysphoria in children.” An artificially induced dysphoria, therefore.

DSDs are estimated at 1 in 5,500 or 1 in 4,000 births, depending on the various studies and whether or not minor anomalies such as moderate hypospadias (urethra not opening at the tip of the penis) are taken into account. In France, this represents around 200 children a year.

         In summary, the various consensuses establish 3 main categories of DSD within which there are gradations.


  1. Chromosomal anomalies: a missing or extra sex chromosome


The most “common” are Turner syndrome (karyotype 45X0 = a missing X chromosome). In this case, the child develops with a female morphology, without ambiguity (let us recall that the female sex is biologically the default sex). Generally, there is stunted growth, bone abnormalities, and, of course, amenorrhea and sterility, as the ovaries are reduced to streaks.


Another chromosomal aberration is Klinefelter syndrome (karyotype 47XXY): the child develops with a male morphology, generally without ambiguity; they are usually tall and slender, with poor body hair development during puberty. Sterility is constant due to azoospermia.


We also find karyotype 47XYY – Jacob’s syndrome, which results in a similar morphology and anomalies to Klinefelter syndrome. Additionally, there are various mosaic variants of these chromosomal anomalies.


In these various cases of chromosomal anomalies, studies do not reveal any deviation in sexual orientation or gender identification compared to standard populations. (The case of Klinefelter reported in the book Transmania actually corresponds to an exceptional case where, in addition to the karyotype anomaly, an enzyme deficiency belonging to another category of DSD is present).

 

  1. DSD XX46


The child develops with a morphology ranging from “true” hermaphroditism (5% of DSDs, of which 90% have an XX karyotype), which remains largely unexplained, to a female morphology including male characteristics to varying degrees, sometimes with malformations of the external genitalia, such as vaginal atresia (blind vagina), up to a more masculine morphology (female pseudohermaphroditism).


The vast majority of cases involve hyperandrogenism, which can have various genetic or non-genetic causes:

La Chapelle syndrome (translocation of the SRY gene onto an X chromosome, meaning a “hidden” XXY karyotype).

Fetal enzymatic anomalies, such as the absence of aromatase, which converts androgens into estrogens.

Androgen overexposure from maternal adrenal glands during pregnancy.

Congenital adrenal hyperplasia (CAH) in the fetus.


All these dysfunctions induce a masculinizing cerebral imprinting in utero.


Beyond these fetal-embryonic dysfunctions, there is also—and this is the leading cause of female infertilityacquired hyperandrogenism, which generally manifests at puberty:

PCOS (Polycystic Ovary Syndrome), which induces an overproduction of androgens (including testosterone).


Various studies (1) show that in these DSDs, who may have grown up as boys or girls, problems of gender identification in adulthood are rare, particularly when the physical appearance of the female is unambiguous. The developmental sex during childhood is retained. On the other hand, Carole Hooven (5) reports that in the case of girls suffering from hyperandrogenism, female homosexuality is higher than the average standard rate (around 30% instead of 4%).

 

  1. DSD XY46


These are also very diverse, ranging from “true” hermaphroditism (which is extremely rare with an XY karyotype) to modifications of the male external genitalia, such as severe hypospadias, which are operable.


However, the most common cases are what are known as male pseudohermaphroditism or cryptohermaphroditism. We can distinguish two main categories.


The first, very rare category is SICA - Syndrome d'insensibilité totale aux androgènes - or Reverse Karyotypes - due to a disabling mutation of the androgen receptor gene carried on the X chromosome. Cases of inactivation of the SRY masculinising gene carried by the Y chromosome can also be compared to SICA. Morphological development is unambiguously female, and remains so throughout life. But sterility is total; the vagina is blind. There are no fallopian tubes, uterus or ovaries, but the testicles remain intra-abdominal. Intersexuality may remain completely unknown to the subject throughout his life if only the diagnosis of sterility with amenorrhoea is made without analysis of the karyotype, or if there is no tumour development of the internal testicles, which is unfortunately frequent. This appears to be the case for the 1932 Olympic 100m champion, the American-Polish Stella Walsh, whose cryptohermaphroditism was only discovered in 1980 when she was autopsied following her accidental death. No variation in sexual orientation or transidentity (less than 0.1%) compared with the standard female population has been reported in any of the cases identified (1).


The second category includes SIPA (partial androgen insensitivity syndrome), 5ARD (deficiency of the 5α reductase enzyme which transforms testosterone into DHT, the hormone required for the development of secondary sexual characteristics) and 17HSD (deficiency of the 17ß-hydroxysteroid dehydrogenase enzyme involved in the biosynthesis of testosterone and DHT from androstenedione). The child develops a female morphology but, at puberty, secondary male characteristics usually appear: hair growth, voice moult, transformation of the external genitalia, etc. These unexpected morphological changes, revealing - if not previously diagnosed - pseudohermaphroditism (see the landmark case of Alexina/Herculine Barbin), logically raise problems of sexual orientation and even identification. Studies on these specific cases give variable results for GID (Gender Identity Disorder) induced by these DSDs, ranging from 13% to 64% change of identity at puberty, for studies on a significant number of cases. (5 GIDs out of 38 DSD-5ARD cases for Maimoun et al., 2021; 6 GIDs out of 16 DSD cases (5ARD+17HSD) for Ismail et al., 2010; 82 GIDs out of 127 DSD cases (5ARD+17HSD) for Cohen-Kettenis et al., 2005). It should be noted, however, that these studies do not specify an essential parameter: did the request for transition come from the people concerned or was it ‘suggested’ by the medical team? At the same time, we note that the study giving the highest percentage of requests for sex reassignment comes, not surprisingly, from a team at the Vreije Universiteit in Amsterdam, applying the Dutch Protocol that it initiated and which, in the face of the Cass report, we can now question the reliability of the data (6) as well as the highly unconvincing justifications (7).


In conclusion, the links between DSD and sexual orientation or transidentity are very tenuous and only significant in very specific cases of intersexuality, far from being the majority, and these links are far from systematic. Murielle François points out that ‘gender reassignment among people with DSD is uncommon: 1 to 8% of gender dysphoria’. (4). This finding merely confirms the artificiality of the LGBTQIA+ acronym, which mixes biological problems, sexual preferences, psychological problems and states of mind with diverse and uncorrelated causes where only ideologised activists can find coherence.

 

Claudio Rubiliani


Thanks to Jacques Robert, Caroline Eliacheff and Céline Masson for their constructive review.


Références


1- Babu, R & Shah, U., 2021. Gender Identity Disorder (GID) in adolescents and adults with Differences of Sex Development (DSD) : A systematic review and meta-analysis. J.Pediatr. Urol. 17, 39-47.

 

 2-Hughes, I.A., Houk, C., Ahmed ; S.F., Lee. P.A. & LWPES1/ESPE2 Consensus Group.2006. Consensus statement on management of intersex disorders. www.archdischild.com. 554-563.

 

3- Cool, M. et al. 2018. Caring for individuals with a difference of sex development (DSD) : a Consensus Statement. Nature Reviews-Endocrinology. 14, 415-429.

 

4-François, M., 2020. Evolutions législatives et enjeux éthiques liés à la prise en charge des enfants ayant un trouble de la différenciation sexuelle (DSD). Médecine & Droit, 2020, 47-57.


5-Hooven, C., 2024. Testosterone. Fyp Editions.


6- Koener, B. et al., 2024. Prise en charge des mineurs présentant une « dysphorie de genre » : Remise en question du protocole médical appliqué par les cliniques de genre.  Louvain Med., 143 (9-10) 575-585.


7- Oosthoek, E.D. et al., 2024. Gender affirming medical treatment for adolescents : a critical reflection on « effective » treatment outcomes. BMC Medical Ethics, 25-154, 1-20.

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