Intersex in four South African racial groups in Durban.

Abstract

Chapter I The ontogeny of sex development is introduced and a definition of the intersexual state is given. A resume of intersexes recorded in South Africa is presented together with figures showing the increased demand for cytogenetic services in the country. The motivation for this study is discussed. Chapter II The biological concept of sex is outlined together with notes on the evolution of the dioecious state in animals. Thereafter a brief account of the normal and abnormal intersex states in invertebrates and vertebrates is given. Chapter III Examples of some of the abundant references to ambisexual individuals found in the classical literature, history and mythology are listed and the status of intersexes in modern society is discussed: it does not vary much from the times of ancient Greece and Rome. Chapter IV A summary of the events which led to the establishment of cytogenetics as an independent discipline is given. The discovery of nuclear sex dimorphism is noted and methods of investigation of intersexual patients are described. A detailed description is given of cytogenetic technical. "methods, ; and leads to a diagrammatic explanation of the differential diagnosis of intersexes. This is used as a basis for the classification and accordingly a simplified, unambiguous system is proposed and defended. The sources and numbers of pat~ ients recorded in this thesis are explained. Chapter V The sex chromatin is described in detail? with a description of the methods used for its demonstration and evaluation. A pilot study of normal women of the four races established that there is no inter-racial variation in chromatin frequency. Reasons are given for disregarding nuclear appendages as an accurate indication of 'sex '. Chapter VI Embryological stage s i n the development of the human urogenital tracts are recounted after considering the mechanisms of sex determination. Pathogenesis of intersexuality is considered briefly. Chapter VII Gonadal dysgenesis of the female, including Turner's syndrome and phenotypes of both male and female are presented. The classification, pathology, aetiological and cytogenetic factors are described. Illustrative case reports and extensive discussion of the syndrome are presented. Chapter VIII The Klinefelter syndrome occurs in males with supernumerary X chromosomes; a number of chromatin negative, hypogonadal conditions mimic the syndrome: they are described, with notes on the classification, pathology, aetiology and the cytogenetic features. A series of case reports demonstrate both chromatin positive and negative types. Special reference is made to the dermatoglyphic profiles which were discovered to differentiate the XY males into two groups. Chapter IX Three syndromes, the XXX, XYY and agonadism, were not encountered in this study and are consequently not discussed. Chapter X The adrenogenital syndrome has several distinctive signs which are mimicked by induced virilization; these are described and a number of case reports are presented to illustrate the syndromes. Chapter XI Male intersexes occur in several different forms: the classification of the group is explained and a distinction is made between intersexes and those with simple, or 'pseudo-intersexual', defects. The signs of the different syndromes are detailed, together with data concerning the aetiology and cytogenetics. A series of patients' case histories is used to illustrate the various syndromes. Chapter XII Idiopathic female intersexuality is defined and a short explanation of the classification is given. The signs found in this syndrome are detailed and a single case report, which is of exceptional interest because of severe masculinization and the formation of a phallic urethra, is presented. Chapter XIII Hermaphroditism is defined and the subgroups are explained. The variability of signs is discussed and details of anatomy and histology of the genital tract are given . A single hermaphrodite was encountered during the survey and the case is described. Three other patients, all infants, were suspected of being hermaphroditic but because gonadal biopsy was not undertaken they were discharged from hospital without a diagnosis having been made. Discussion of the aetiological mechanisms is presented and the need for early diagnosis and treatment is emphasized. Chapter XIV Some of the simple genital anomalies and somatic defects which resemble intersex are mentioned and are illustrated by attenuated case reports. Chapter XV The incidence of those intersexual conditions recognizable at birth by anatomical deformity is calculated from a total population of 21,000 live births recorded during the calendar year, 1969. The incidence was very low (1:7000) and does not permit analysis of inter-racial distribution. Prevalence is calculated from the number of new patients seen by the author during 1969 in Durban. Some interesting observations were made but the primary objective, to determine whether or not intersexuality is more prevalent in the Bantu than any other race, could not be answered with certainty because of the small number of patients. Hermaphroditism was shown not to be the most common type of intersex syndrome in the Bantu. Chapter XVI An outline is given of the normal dermatoglyphic features of the finger prints and palms. Some references of the patterns in Turner's and Klinefelter's syndromes are available from the literature and are compared with the profiles of patients from this series. A distinct dimorphism was found in chromatin negative hypogonadal males and was thought to distinguish between those with congenital or acquired pathology. Normal values for South Africans have not been established satisfactorily and the urgent need for this information is stressed. Chapter XVII A general discussion of the highlights of this study of the epidemiology, clinical presentation and cytogenetics of intersexuality is given and a number of conclusions are drawn .