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Garry Warne

Publications and source records attributed to Garry Warne.

5 recordsLinked to original sources
PubMed2005

Effect of Turner's syndrome and X-linked imprinting on cognitive status: analysis based on pedigree data.

The effects of a monosomy of either the maternally or paternally derived X chromosome in Turner's syndrome (TS) on general neurocognitive status and some executive abilities were assessed using the maximum likelihood estimators for pedigree data. This method increases the power of analysis by accounting for the effect of background heritable variation on a trait. The sample comprised 42 females with regular non-mosaic X monosomy and their non-affected relatives. Wechsler neurocognitive scores and several executive function tests' scores, including the Behaviour Dyscontrol Scale (BDS-2), the Wisconsin Card Sorting Test (WCST), and the Rey Complex Figure Test (RCFT), were considered in the analysis. Results showed a significant effect of TS on all Wechsler index and subtest scores, with greatest deficits observed in Arithmetic, Block Design, Object Assembly and Picture Arrangement, and on the total BDS, RCFT and WCST scores, regardless of parental origin of the single X-chromosome. Our data also showed a significantly higher effect of a paternally derived X chromosome in diminishing the performance on several Wechsler scores relevant to verbal skills, which might suggest X-linked imprinting loci relevant to these skills. Possible reasons for the inconsistency of the results concerning X-linked imprinting of cognitive loci using TS patients are discussed, and the relevance of pedigree analysis to future studies of this problem is emphasized.

Adolescent↗
PubMed2005

Practical management of the intersex infant.

Intersex occurs when the appearance of the internal or external genitalia is at variance with normal development for either sex. The first question asked by, and of new parents in relation to their offspring is often "Is it a boy or a girl"? A rational approach, based on knowledge of normal prenatal sexual development, and based on a careful physical examination to guide further investigation, is required to reach a diagnosis. We briefly review prenatal sexual development to provide a background to the assessment of genital ambiguity in the newborn. Aspects of physical examination are discussed in detail, with reference to published normative data where possible. We provide a classification of genital ambiguity and an approach to differential diagnosis. We highlight some of the many syndromes associated with genital ambiguity, with reference to their genetic basis where possible. In 46,XX individuals, the commonest cause of genital ambiguity is congenital adrenal hyperplasia due to 21-hydroxylase deficiency; however, in 46,XY individuals the differential diagnosis is wide, and may remain unexplained, even after extensive investigation. Two algorithms are presented, one of which provides an initial approach based on the presence of a uterus and palpable gonads alone, and a second illustrating a comprehensive differential diagnosis of the undervirilised 46,XY individual. We discuss our approach to sharing information on the diagnosis and management with the parents and highlight the early involvement of an experienced multidisciplinary team. Finally, we consider current controversial issues relating to gender assignment and management of genital ambiguity.

Chromosome Aberrations↗
PubMed2005

A long-term outcome study of intersex conditions.

CONTEXT: Clinical management of intersex conditions is controversial because the available evidence is limited and conflicting, with no long-term population based studies comparing matched controls. OBJECTIVE: To assess the long-term psychological, sexual and social outcomes of patients with intersex compared with two matched control populations. DESIGN, SETTING AND PARTICIPANTS: Three different aged-matched (18-32 years) patient groups completed a self-administered questionnaire of established quality of life and well-being inventories measuring physical' health, psychological adjustment and sexuality, following a mail-out to all identified patients. The intersex group (n = 50) and the Hirschsprung disease, a congenital disorder, control group (n = 27), were patients who had attended the Royal Children's Hospital, a tertiary centre, for their clinical care. The insulin dependent diabetes mellitus control group was recruited from an adult tertiary hospital. The study was conducted at the hospital-based Murdoch Childrens Research Institute. MAIN OUTCOME MEASURES: Psychological, sexual and social outcomes. RESULTS: The intersex group did not differ from controls on physical or mental health, depression, state anxiety, neuroticism, psychoticism or stressful life events. Intersex participants were satisfied with their overall body appearance, although intersex males were less satisfied than controls with the size (p <0.05) and appearance (p <0.01) of their sex organs. The intersex group was less likely to experience orgasm (p <0.05), tended to experience more pain during intercourse (p = 0.06), had more difficulties with penetration (p <0.01) and were less likely to have sexual activity several times or more a week (p <0.05) than the combined control groups. Intersex participants did not differ from controls in level of sexual desire or enjoyment of sexual activities. CONCLUSIONS: Most patients with intersex had positive psychosocial and psychosexual outcomes, although some problems were reported with sexual activity. These results overall suggest that a model of care including early genital surgery carried out at a centre of excellence with a multidisciplinary team can minimize long-term complication rates.

Adolescent↗
PubMed2004

Gonadal dysgenesis with a difference.

We report here an exceptional clinical finding of a 46,XY phenotypic female with complete gonadal dysgenesis, but who was found unexpectedly to have absence of the uterus and posterior vagina. Extensive review of current and past literature failed to confirm other reports of this variant form of complete gonadal dysgenesis.

Amenorrhea↗