Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021)

Abstract

It is paramount that any child or adolescent with a suspected difference or disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD and is discussed with the regional DSD service. In most cases, the paediatric endocrinologist within this service acts as the first point of contact but involvement of the regional multidisciplinary service will also ensure prompt access to specialist psychology and nursing care. The underlying pathophysiology of DSD and the process of delineating this should be discussed with the parents and affected young person with all diagnostic tests undertaken in a timely fashion. Finally, for rare conditions such as these, it is imperative that clinical experience is shared through national and international clinical and research collaborations.

17β hydroxysteroid dehydrogenase 3 deficiency in 46,XY disorders of sex development: Our experience and a gender role‐focused systematic review

“…17β-hydroxysteroid dehydrogenase 3 (17βHSD3) deficiency, an androgen biosynthetic defect inherited in an autosomal recessive mode, impairs the conversion of androstenedione (A) to testosterone (T) in testes. 1,2 The precise incidence of this 46,XY disorder of sex development (DSD) is unknown, but rates as high as 1 in 100-150 males have been reported in a few geographic areas such as the Gaza strip. 3 Over 45 pathogenic molecular variants in the HSD17B3 gene have been reported worldwide, and few are region-specific.…”

Are We Prepared to Abandon the Idea of Sex Binarism? A Biomedical Perspective

“…The birth of a child with ambiguous genitalia prompts a long-term management strategy involving a multidisciplinary professional team working with the family. Remarkable progress could be observed in recent years in the diagnosis and treatment of patients with DSD, as well as in the understanding of psychosocial issues and the acknowledgement and acceptance of the place of patient advocacy [17, 18]. One particular consideration is the importance of the patient’s participation in decision-making.…”

“…On the one hand, healthcare of patients with DSD and that of individuals with gender issues (e.g., transgender) are being mixed up. Even if some treatment options may be shared, such as hormone therapy [17, 18, 24], differences associated with gender diversity should not be confused with disorders in fetal sex development. Here, careful wording is important: we have seen that there is a wide range of possibilities in gender perception and choice, with no dimorphism, and not resulting from a health disorder.…”

“…Here, careful wording is important: we have seen that there is a wide range of possibilities in gender perception and choice, with no dimorphism, and not resulting from a health disorder. These are therefore “differences.” Conversely, the biological process of fetal sex differentiation shows a clear dimorphism, and intersex conditions are discernible health conditions, with an underlying pathophysiology identified in the majority of them (disorders of gonadal development, defective sex-hormone synthesis or action [3, 17, 18]) and even a genetic aetiology diagnosed in a considerable proportion [25]. DSD are therefore “disorders.” It is obvious that a disorder is a difference; yet not all differences are disorders.…”

“…These are therefore "differences." Conversely, the biological process of fetal sex differentiation shows a clear dimorphism, and intersex conditions are discernible health conditions, with an underlying pathophysiology identified in the majority of them (disorders of gonadal development, defective sex-hormone synthesis or action [3,17,18]) and even a genetic aetiology diagnosed in a considerable proportion [25]. DSD are therefore "disorders."…”