ANNALS OF HUMAN mOLOGY, 1979, VOL. 6, NO. 5, 417-430
Dermatoglyphics in the testieular feminization syndrome P. E. POLANI and N. POLANI Paediatric Research Unit, Guy's Hospital Medical School
Ann Hum Biol Downloaded from informahealthcare.com by York University Libraries on 12/14/14 For personal use only.
Received I 1 May 1978: revised 21 February 1979
Summary. Dermatoglyphic characteristics, both quantitative and qualitative, of fingers and palms of 19 46,XY propositae with the complete form of the testicular feminization syndrome, derived from 28 index kinships,-have been analysed in detail. The results reveal trends which allow the tentative conclusions to be reached that in normal circumstances, and insofar as the sex chromosome influence is concerned, aspects of the development of the palmar patterns of loops and triradii may be directly influenced by the sex chromosomal complement of the fetus; by contrast the digital ridges, and, secondarily, the digital patterns, may be influenced to an extent by testicular androgens.
1.
Introduction The syndrome of testicular feminization (TF) (Morris 1953) is a disorder of sex differentiation of which two clinical varieties are described, complete and incomplete. The complete form has four main clinical characteristics: a female habitus with normal breast development and external genitals; complete or almost complete sexual baldness; absent or very rudimentary Miillerian and Wolffian derivatives with a blindending and often short vagina; intra-abdominal or inguinal (hernial) testes. In the incomplete form, or forms, there is a variable degree of masculinization as shown by degrees of clitoral hypertrophy, the presence of sex hair, and generally marked breast underdevelopment. At one stage the syndrome was thought to be caused by a sex chromosome anomaly (Danon and Sachs 1957), but chromosome studies in T F (Jacobs, Baikie, Court Brown, Forrest, Roy, Stewart and Lennox 1959) have shown a normal male complement which has now been repeatedly demonstrated and is a standard diagnostic characteristic. It is estimated that the complete form of TF, which is a single gene disorder (Petterson and Bonnier 1937, Taillard and Prader 1957), has a frequency of about one in 120 000 (Jagiello and Atwell 1962). The evidence is that this form is inherited in a sex-linked way rather than male-limited autosomal, with which alternative the manner of family transmission is nevertheless compatible. Most directly in favour of X linkage is the presence of two cell clones with different responsiveness to androgen (see below) in the cultured skin of mothers of testicular feminization subjects (Meyer, Migeon and Migeon 1975), but there is also indirect evidence (Dieke 1957, Lyon and Hawkes 1970). On the other hand, so far there is no evidence in man of close linkage of the Tfm allele to known XClinked loci, such as the deutan/protan alleles (Polani 1970) or those of Xg (Race and Sanger 1975). As for the incomplete form of testicular feminization, evidence suggests heterogeneity, and this form will not be considered in this study. Work done particularly on the TJm mutation in the mouse has confirmed the view of Wilkins (1950) that at least the complete form may be due to androgen resistance, and has suggested that the anomaly might reside in the product of the mutant allele of the Tfm gene, which is considered to be the structural locus for the production of an intracellular androgen-receptor protein, on which the responses of the target organs depend (Ohno 1974). However, the exact type of androgen-resistance mechanism is not fully resolved (for a review see Ohno 1976). As a result of the X-linked mutation, the 0031 4460
Dermatoglyphics in the testieular feminization syndrome P. E. POLANI and N. POLANI Paediatric Research Unit, Guy's Hospital Medical School
Ann Hum Biol Downloaded from informahealthcare.com by York University Libraries on 12/14/14 For personal use only.
Received I 1 May 1978: revised 21 February 1979
Summary. Dermatoglyphic characteristics, both quantitative and qualitative, of fingers and palms of 19 46,XY propositae with the complete form of the testicular feminization syndrome, derived from 28 index kinships,-have been analysed in detail. The results reveal trends which allow the tentative conclusions to be reached that in normal circumstances, and insofar as the sex chromosome influence is concerned, aspects of the development of the palmar patterns of loops and triradii may be directly influenced by the sex chromosomal complement of the fetus; by contrast the digital ridges, and, secondarily, the digital patterns, may be influenced to an extent by testicular androgens.
1.
Introduction The syndrome of testicular feminization (TF) (Morris 1953) is a disorder of sex differentiation of which two clinical varieties are described, complete and incomplete. The complete form has four main clinical characteristics: a female habitus with normal breast development and external genitals; complete or almost complete sexual baldness; absent or very rudimentary Miillerian and Wolffian derivatives with a blindending and often short vagina; intra-abdominal or inguinal (hernial) testes. In the incomplete form, or forms, there is a variable degree of masculinization as shown by degrees of clitoral hypertrophy, the presence of sex hair, and generally marked breast underdevelopment. At one stage the syndrome was thought to be caused by a sex chromosome anomaly (Danon and Sachs 1957), but chromosome studies in T F (Jacobs, Baikie, Court Brown, Forrest, Roy, Stewart and Lennox 1959) have shown a normal male complement which has now been repeatedly demonstrated and is a standard diagnostic characteristic. It is estimated that the complete form of TF, which is a single gene disorder (Petterson and Bonnier 1937, Taillard and Prader 1957), has a frequency of about one in 120 000 (Jagiello and Atwell 1962). The evidence is that this form is inherited in a sex-linked way rather than male-limited autosomal, with which alternative the manner of family transmission is nevertheless compatible. Most directly in favour of X linkage is the presence of two cell clones with different responsiveness to androgen (see below) in the cultured skin of mothers of testicular feminization subjects (Meyer, Migeon and Migeon 1975), but there is also indirect evidence (Dieke 1957, Lyon and Hawkes 1970). On the other hand, so far there is no evidence in man of close linkage of the Tfm allele to known XClinked loci, such as the deutan/protan alleles (Polani 1970) or those of Xg (Race and Sanger 1975). As for the incomplete form of testicular feminization, evidence suggests heterogeneity, and this form will not be considered in this study. Work done particularly on the TJm mutation in the mouse has confirmed the view of Wilkins (1950) that at least the complete form may be due to androgen resistance, and has suggested that the anomaly might reside in the product of the mutant allele of the Tfm gene, which is considered to be the structural locus for the production of an intracellular androgen-receptor protein, on which the responses of the target organs depend (Ohno 1974). However, the exact type of androgen-resistance mechanism is not fully resolved (for a review see Ohno 1976). As a result of the X-linked mutation, the 0031 4460
