PubMed · 13541304
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F VON MIKULICZ-RADECKI, J HAMMERSTEIN. 1958-03-21. [Deviations from normal sex].. https://pubmed.ncbi.nlm.nih.gov/13541304/
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The purpose of this chapter is to review the presentation and management of patients affected by conditions of abnormal sex differentiation. First, the processes of normal sex differentiation are covered, followed by an overview of the various syndromes of abnormal sex differentiation, or intersex conditions, that can occur. These disorders are presented according to the following categories: patients who possess a 46,XX chromosome complement, those who possess a 46,XY chromosome complement, and individuals who present with an atypical sex chromosome complement (i.e. 45,XO or 45,X0/46,XY mosaicism). A description of the medical, surgical and psychological treatment options for people affected by various intersex conditions and reared as females are included. Practice points, based on research studies when available, are dispersed throughout the chapter. Additionally, information pertaining to relevant Internet websites and patient support groups are provided, so that medical staff can educate their patients about the availability of these resources.
Despite enormous advances in the understanding of the molecular mechanisms of sexual differentiation, the medical decisions made in patients with disorders of somatosexual differentiation are mostly lacking evidence-based principles. Recent critical discussions have focused on approaches to gender assignment in infants with ambiguous genitalia. These decisions must be based on the correct diagnosis to be able to predict the development during puberty and adulthood in the affected individual. Puberty in this process plays a pivotal role not only because of the physical changes induced by endogenous or supplementary sex steroids to enhance the sex of rearing, but it is also the time for sexual orientation and promotion of gender identity. In this review we focus not only on the molecular impact of sex steroid action, but also view current opinions and studies on the gender development of the intersex patient during puberty.
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