- Part 1 Principles of international endocrine practice
- Part 2 Pituitary and hypothalamic diseases
- Part 3 The thyroid
- Part 4 Parathyroid, calcium, and bone metabolism
- Part 5 The adrenal gland and endocrine hypertension
- Part 6 Neuroendocrine tumours and genetic disorders
- Part 7 Growth and development during childhood
- Part 8 Female endocrinology and pregnancy
- Part 9 Male hypogonadism and infertility
- 9.1 Definitions and classification of disorders
- 9.2 Normal male endocrinology
- 9.3 Evaluation of the male patient with suspected hypogonadism and/or infertility
- 9.4 Male endocrinological disorders and male factor infertility
- 9.4.1 Congenital anorchia, acquired anorchia, testicular maldescent, and varicocele
- 9.4.2 Disturbed spermatogenesis
- 9.4.3 Klinefelter’s syndrome
- 9.4.4 XX male
- 9.4.5 XYY male
- 9.4.6 Structural chromosome abnormalities
- 9.4.7 Sequelae of extratesticular disease
- 9.4.8 Testicular tumours
- 9.4.9 Infections/inflammation of the genital tract
- 9.4.10 Obstructions
- 9.4.11 Immunological infertility
- 9.4.12 Idiopathic infertility
- 9.4.13 Treatment of hypogonadism and infertility
- 9.4.14 Insemination, in vitro fertilization, and intracytoplasmic sperm injection
- 9.4.15 Cryopreservation of sperm
- 9.4.16 Sexuality and erectile dysfunction
- 9.4.17 Gynaecomastia
- 9.4.18 Transsexualism
- 9.5 Exogenous factors and male reproductive health
- Part 10 Endocrinology of ageing and systemic disease
- Part 11 Endocrinology of cancer
- Part 12 Obesity, lipids, and metabolic disorders
- Part 13 Diabetes mellitus
XX male
- Chapter:
- XX male
- Author(s):
Dieter Meschede
and Eberhard Nieschlag
- DOI:
- 10.1093/med/9780199235292.003.9079
This disorder is characterized by the combination of male external genitalia, testicular differentiation of the gonads, and an apparent 46,XX karyotype. Designation of the karyotype as 46,XX is based on conventional cytogenetic analysis, where the X chromosomes have an inconspicuous appearance. If molecular methods are applied, most XX males can be shown to have translocated Y-chromosomal material on the tip of one X chromosome. Strictly speaking, the karyotype of these patients should be written as 46,X,der(X)t(Xp;Yp).
It has been suggested that this disorder be renamed ‘46,XX testicular disorder of sex development’ (1). The authors prefer to stay with the the less clumsy ‘XX male (syndrome)’.
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- Part 1 Principles of international endocrine practice
- Part 2 Pituitary and hypothalamic diseases
- Part 3 The thyroid
- Part 4 Parathyroid, calcium, and bone metabolism
- Part 5 The adrenal gland and endocrine hypertension
- Part 6 Neuroendocrine tumours and genetic disorders
- Part 7 Growth and development during childhood
- Part 8 Female endocrinology and pregnancy
- Part 9 Male hypogonadism and infertility
- 9.1 Definitions and classification of disorders
- 9.2 Normal male endocrinology
- 9.3 Evaluation of the male patient with suspected hypogonadism and/or infertility
- 9.4 Male endocrinological disorders and male factor infertility
- 9.4.1 Congenital anorchia, acquired anorchia, testicular maldescent, and varicocele
- 9.4.2 Disturbed spermatogenesis
- 9.4.3 Klinefelter’s syndrome
- 9.4.4 XX male
- 9.4.5 XYY male
- 9.4.6 Structural chromosome abnormalities
- 9.4.7 Sequelae of extratesticular disease
- 9.4.8 Testicular tumours
- 9.4.9 Infections/inflammation of the genital tract
- 9.4.10 Obstructions
- 9.4.11 Immunological infertility
- 9.4.12 Idiopathic infertility
- 9.4.13 Treatment of hypogonadism and infertility
- 9.4.14 Insemination, in vitro fertilization, and intracytoplasmic sperm injection
- 9.4.15 Cryopreservation of sperm
- 9.4.16 Sexuality and erectile dysfunction
- 9.4.17 Gynaecomastia
- 9.4.18 Transsexualism
- 9.5 Exogenous factors and male reproductive health
- Part 10 Endocrinology of ageing and systemic disease
- Part 11 Endocrinology of cancer
- Part 12 Obesity, lipids, and metabolic disorders
- Part 13 Diabetes mellitus