Intersex Problems

Arch Dis Child: first published as 10.1136/adc.59.12.1191 on 1 December 1984. Downloaded from Archives of Disease in Childhood, 1984, 59, 1191-1194 Personal practice Intersex problems J DEWHURST AND D B GRANT Institute of Obstetrics and Gynaecology, Queen Charlotte's Hospital, and Hospital for Sick Children, Great Ormond Street, London Paediatricians are familiar with the grief and anxiety XY/45 X mosaicism ('mixed gonadal dysgenesis'), which follow the birth of a child with a congenital or even a true hermaphrodite with one gonad within malformation. When this involves the genitalia and the abdomen. Absence of a palpable gonad suggests there is doubt about the true sex of the child, sorrow that the patient is a virilised female (female is accompanied by embarrassment and dismay, pseudohermaphrodite), when the most likely di- leading to questions which cannot be ignored but agnosis is congenital adrenal hyperplasia. In this which may be difficult to answer. We believe that it condition the external genitalia may occasionally be is important for parents in this situation to be told almost completely masculinised and the only clue to that urgent investigation will be carried out to define the diagnosis may lie in the apparent bilateral their baby's problem, and that they are left in no cryptorchidism of an otherwise normal boy. to an doubt that it will be possible make appropriate copyright. assignment of gender. The temptation to give a Investigation 'provisional' opinion must be avoided and in some cases it will be necessary to ask the local Registrar of Laboratory investigation of patients with intersex Births and Deaths for permission to defer registra- disorders has been reviewed in several recent tion until the more appropriate sex for the child has publications' 2 and will only be discussed briefly. been decided. With few exceptions, we believe that full chromosome analysis is needed in children with ambiguous Initial assessment genitalia: while examination of a buccal smear for nuclear chromatin can give a rapid result, the http://adc.bmj.com/ In general, two different types of genital malforma- findings may be misleading, particularly in patients tion are possible. In one, the appearance is of with abnormal sex chromosome patterns such as 45 extreme underdevelopment of otherwise normal X/46 XY mosaicism. male genitalia, with micropenis but no hypospadias. If congenital adrenal hyperplasia seems the most Fetal gonadotrophin deficiency, other forms of likely diagnosis, estimation of plasma 17a- hypopituitarism, 'rudimentary testes', and Klinefel- hydroxyprogesterone and 11-deoxycortisol have ter's syndrome are the best recognised causes of this greatly facilitated the diagnosis of the 21- type of anomaly. In the other variety, the genitalia hydroxylase and 11-hydroxylase types of the dis- on September 25, 2021 by guest. Protected may show a pattern which is intermediate between order and have largely replaced analysis of urinary the normal male and female appearances, and it is steroids. not clear whether the patient is a boy with severe In patients with bilateral gonads and a 46 XY hypospadias or a girl with cliteromegaly and fusion karyotype, investigation of plasma testosterone, of the labial folds. In these patients the presence or dihydrotestosterone, and androgen precursors be- absence of palpable gonads is an important physical fore and after stimulation with human chorionic sign. Bilateral inguinal gonads suggest that the gonadotrophin (1000 IU) given daily for three days patient is a poorly virilised male (male pseudo- will help to decide whether the patient has a defect hermaphrodite), or possibly a hermaphrodite with of testosterone (or dihydrotestosterone) synthesis, ovotestes. The presence of a unilateral gonad or whether testosterone production is normal and suggests several possibilities, including for example the basic problem is one of impaired sensitivity of a male pseudohermaphrodite, a patient with a testis the genital tissues to androgen. This latter type of and a contralateral dysgenetic gonad as a result of 46 case still poses one of the greatest challenges in 1191 Arch Dis Child: first published as 10.1136/adc.59.12.1191 on 1 December 1984. Downloaded from 1192 Dewhurst and Grant paediatric endocrinology. While it is now possible to intersex disorders are associated with infertility in determine whether the impaired response is related adult life although a few true hermaphrodites have to an abnormality of the androgen binding receptors been reported as fertile.3 Thirdly, the views of the in tissue cultures of genital skin, as yet these parents on the most appropriate sex for their child methods do not allow a clear prediction of the must be taken into account. The race and cultural degree of genital development which will take place background of the family may be very important, at the time of puberty. We sometimes give such especially when they are from societies where men patients a brief course of low doses of depo- occupy much more prestigious positions than testosterone, for example 25 to 50 mg for a total of women. three injections given at four week intervals, to try A newborn female child with congenital adrenal to determine the likely extent of development at hyperplasia or hormone induced masculinisation puberty. Unfortunately, the degree of enlargement will almost always be brought up in the female role, of the phallus in response to treatment is often regardless of the degree of masculinisation, which difficult to assess accurately, particularly as notice- can be corrected surgically. The extent to which able chordee is usually present. A therapeutic trial ambiguous genitalia can be made into functioning of testosterone may be more successful in patients male organs is an important and often more difficult with micropenis, many of whom respond well with consideration in other cases; if this cannot be done good growth of the phallus. with any reasonable hope of success, the female role Radiographic investigation using contrast media should be chosen since it is always possible to to visualise the urethra or vagina may be of value, achieve this by surgical correction. particularly in patients who are likely to be raised as girls and who may require vaginoplasty at a later Presentation in later childhood or at puberty date. In some patients laparotomy or laparoscopy with In some instances, the presence of an intersex gonadal biopsy is indicated: this is particularly the disorder will not become apparent until later child- in a case in those with asymmetric gonadal development hood. For example, precocious puberty sup-copyright. or patients who show a discrepancy between the posedly cryptorchid boy may bring to light the clinical findings and the karyotype-for example, no presence of congenital adrenal hyperplasia in a palpable gonads in a patient with a 46 XY karyotype severely masculinised girl, or perhaps more com- or bilateral gonads in a patient with a 46 XX monly, virilisation at adolescence in an otherwise karyotype. In the former the biopsy may show the normal girl may occur as a result of undiagnosed presence of gonadal dysplasia; in the latter, testicu- male pseudohermaphroditism. lar and ovarian tissue indicating true hermaphrodit- In this situation, assignment of gender is con- ism. In general, laparotomy and gonadal biopsy are cerned with the suitability of the external genitalia not indicated in girls with congenital adrenal hyper- for life in the gender role in which the patient is http://adc.bmj.com/ plasia or in patients with bilateral gonads and a 46 already living and the orientation of the patient to XY karyotype. that role. If, as is usually the case, the external genitalia are appropriate to the gender in which the Assessment of gender in the newborn patient has been living and is well adjusted, this role would be maintained and underscored by any There are three important factors to be taken into surgical or hormone treatment which might be consideration when deciding the more appropriate required. The most difficult cases are those in which gender for an intersex patient. Firstly, the anatomy the patient, although well adjusted to the male role, on September 25, 2021 by guest. Protected of the genitalia must be assessed to define the ease has poor external genital development which might or difficulty of the surgical procedures which will be make sexual life as a male unsuccessful. One is faced needed to construct functional male or female with the very difficult decision whether to leave such external genitalia. Secondly, the pattern of pubertal a patient in the gender to which he is adjusted, but change which can be expected at the time of in which he cannot perform sexually, or to re- adolescence must be considered; will there be register in the opposite role and risk hopeless spontaneous virilisation or feminisation, and will psychological confusion. such changes be fairly complete or will treatment with androgens or oestrogens be needed? Repro- Surgical management ductive potential is only an important consideration in girls with congenital adrenal hyperplasia or Mention must be made of the different surgical hormone-induced female pseudohermaphroditism procedures which may be necessary, with particular who are potentially fertile; most of the other reference to their timing. Arch Dis Child: first published as 10.1136/adc.59.12.1191 on 1 December 1984. Downloaded from Intersex problems 1193 In a girl with congenital adrenal hyperplasia two rearing-should be removed; if the male role has procedures may be necessary, reduction in size of been chosen, hysterectomy will also be required. In the phallus and enlargement of the constricted either role external genital surgery may be neces- vaginal introitus. Our preference is for reduction of sary. the clitoris during early infancy, and surgery can be performed in the neonatal period as soon as the Management at puberty congenital adrenal hyperplasia has been controlled.

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