A difficulty to recognize at birth a male from a female newborn due to the presence of “ambiguous genitalia” is a rare event, but abnormalities of the external genitalia that need further investigation may occur in about 1 in 4000 birth. Terms as intersex, hermaphroditism or pseudohermaphroditism have been considered unacceptable by affected individuals and support groups. Thus, a new nomenclature has been proposed. According to karyotype, DSD are divided in disorders with normal or abnormal sex chromosomes. DSD with karyotype abnormalities include diseases in which the number of sex chromosome is impaired. In 46, XX DSD three different groups of disorders may be described: a) disorders of ovarian development, b) disorders of androgen excess, including congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD), which is the commonest cause of ambiguous genitalia of the newborn and c) other conditions affecting sex development (some syndromic associations that can cause developmental genital abnormalities in 46,XX girls). 46,XY DSD are divided into: (1) disorders of gonadal development, (2) disorders of testosterone byosinthesis, metabolism or action, (3) other conditions. Initial management of DSD depends on establishing an early diagnosis, which is just as important as in other chronic medical conditions leading to life-long consequences. However, reaching a certain diagnosis may be difficult in many cases. To this purpose, discussion between a multidisciplinary medical team and the parents must be open, and parents’ participation in decision-making should be encouraged.
Balsamo A., Cicognani A., Ghirri P., Scaramuzzo R.T., D’Alberton F., Bertelloni S., et al. (2011). Disorders of sexual development. MILANO : Springer Verlag.
Disorders of sexual development
BALSAMO, ANTONIO;CICOGNANI, ALESSANDRO;
2011
Abstract
A difficulty to recognize at birth a male from a female newborn due to the presence of “ambiguous genitalia” is a rare event, but abnormalities of the external genitalia that need further investigation may occur in about 1 in 4000 birth. Terms as intersex, hermaphroditism or pseudohermaphroditism have been considered unacceptable by affected individuals and support groups. Thus, a new nomenclature has been proposed. According to karyotype, DSD are divided in disorders with normal or abnormal sex chromosomes. DSD with karyotype abnormalities include diseases in which the number of sex chromosome is impaired. In 46, XX DSD three different groups of disorders may be described: a) disorders of ovarian development, b) disorders of androgen excess, including congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD), which is the commonest cause of ambiguous genitalia of the newborn and c) other conditions affecting sex development (some syndromic associations that can cause developmental genital abnormalities in 46,XX girls). 46,XY DSD are divided into: (1) disorders of gonadal development, (2) disorders of testosterone byosinthesis, metabolism or action, (3) other conditions. Initial management of DSD depends on establishing an early diagnosis, which is just as important as in other chronic medical conditions leading to life-long consequences. However, reaching a certain diagnosis may be difficult in many cases. To this purpose, discussion between a multidisciplinary medical team and the parents must be open, and parents’ participation in decision-making should be encouraged.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
