Abstract
In this review, the elements included in both sex determination and sex differentiation are briefly analyzed, exposing the pathophysiological and clinical classification of disorders or anomalies of sex development. Anomalies in sex determination without sex ambiguity include gonadal dysgenesis, polysomies, male XX, and Klinefelter syndrome (dysgenesis and polysomies with a female phenotype; and sex reversal and Klinefelter with a male phenotype). Other infertility situations could also be included here as minor degrees of dysgenesis. Anomalies in sex determination with sex ambiguity should (usually) include testicular dysgenesis and ovotesticular disorders. Among the anomalies in sex differentiation, we include: (1) males with androgen deficiency (MAD) that correspond to those individuals whose karyotype and gonads are male (XY and testes), but the phenotype can be female due to different hormonal abnormalities. (2) females with androgen excess (FAE); these patients have ovaries and a 46,XX karyotype, but present varying degrees of external genital virilization as a result of an enzyme abnormality that affects adrenal steroid biosynthesis and leads to congenital adrenal hyperplasia; less frequently, this can be caused by iatrogenia or tumors. (3) Kallman syndrome. All of these anomalies are reviewed and analyzed herein, as well as related fertility problems.
Highlights
Disorders of sex development (DSDs) were defined as “congenital conditions within which the development of chromosomal, gonadal, and anatomic sex is atypical” at the Chicago Consensus Meeting in 2005, which was published as a Consensus Statement in 2006 [1,2,3]
There have been and are many controversies around DSDs, both because of the negative connotations perceived by organizations and professionals when using terms such as “disorders,” and because some health professionals consider as inaccurate, non-descript, and confusing certain terms such as “intersex,” “pseudohermaphroditism,” “hermaphroditism,” and “sex reversal” [3,4,5]
Sex development can be divided into two different processes: (1) the determination of sex, which is the destination of the undifferentiated gonad to form the testis or ovary, and which, as has been said, is a process that is genetically programmed in a critical way; (2) sex differentiation, which takes place through the hormones produced by the gonads both during their formation and once they have been formed
Summary
Disorders of sex development (DSDs) were defined as “congenital conditions within which the development of chromosomal, gonadal, and anatomic sex is atypical” at the Chicago Consensus Meeting in 2005, which was published as a Consensus Statement in 2006 [1,2,3]. There have been and are many controversies around DSDs, both because of the negative connotations perceived by organizations and professionals when using terms such as “disorders,” and because some health professionals consider as inaccurate, non-descript, and confusing certain terms such as “intersex,” “pseudohermaphroditism,” “hermaphroditism,” and “sex reversal” [3,4,5]. Other authors [6,7] prefer the term “differences” and use the same acronym—DSD— to refer to differences of sex development; others, as well as ourselves, do not consider the nomenclature and classification proposed in the Chicago consensus as the most appropriate. We believe that it is preferable to analyze normal or physiological sex determination and subsequent sex differentiation to expose any anomalies, as they would be included in a pathophysiological and clinical classification of anomalies in sex development (ASDs) [8,9], and to continue with their orderly exposure and with the related fertility problems
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