The XY female.
Sexual differentiation depends upon a series of complex events that leads to the differentiation of gonads into testicular tissue and the production and action of androgens on genital tissue. Variations in any of the pathways affecting the above events can lead into conditions where the phenotype and genotype are discordant, conditions nowadays called disorders of sex development (DSDs). These conditions may have some aspects in common such as infertility and the need for feminising surgery or gonadectomy. However, each entity has its particularities, and it is necessary that every effort is made to reach the correct diagnosis. As genetic information becomes more readily available, these conditions can be diagnosed with more ease and appropriate counselling can be provided to other members of the family regarding the treatment options and risk. Due to the rarity of DSDs, it is important that their management is undertaken in tertiary referral centres with accumulated experience on diagnosis and management and where a multidisciplinary team can provide the necessary medical and surgical support. Disclosure of the diagnosis should be done in a sensitive way by experienced staff, and psychological counselling should be readily available to patients and their family.
Michala
Lina
L
Alexandras Hospital, 6 Lampsakou street, Athens, Greece. linamichalas@hotmail.com
Creighton
Sarah M
SM
D003937:Diagnosis, Differential; D012734:Disorders of Sex Development / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics; D012733:Sex Differentiation / Q000502:physiology*; D009626:Terminology as Topic