Current Concepts in Disorders of Sexual Development

Abstract

Disorders of sex development (DSD) with or without ambiguous genitalia require medical attention to reach a definite diagnosis. Advances in identification of molecular causes of abnormal sex, heightened awareness of ethical issues and this necessitated a re-evaluation of nomenclature. The term DSD was proposed for congenital conditions in which chromosomal, gonadal or anatomical sex is atypical. In general, factors influencing sex determination are transcriptional regulators, whereas factors important for sex differentiation are secreted hormones and their receptors.The current intense debate on the management of patients with intersexuality and related conditions focus on four major issues: 1) aetiological diagnosis, 2) assignment of gender, 3) indication for and timing of genital surgery, 4) the disclosure of medical information to the patient and his/her parents. The psychological and social implications of gender assignment require a multidisciplinary approach and a team which includes ageneticist, neonatologist, endocrinologist, gynaecologist, psychiatrist, surgeon and a social worker. Each patient should be evaluated individually by multidisciplinary approach. Conflict of interest:None declared.

Disorders of sex development 45,X/46,XY: clinical and laboratory characteristics of patients

“…У пациентов с НФП 45,Х/46,ХY возможны различные варианты выбора гендер-ной принадлежности. При ýтом принимается во внимание совокупность таких факторов, как степень маскулинизации наружных гениталий, возможность их оперативной коррекции в соот-ветствии с выбранным полом, морфологическая зрелость гонад, потенциал фертильности, мнение родителей и микросоциума [1,2]. В исследуемой когорте пациентов мужской пол был выбран у большинства пациентов (77%), что сопоставимо с данными других исследователей [1,2,7].…”

“…Распространен-ность НФП составляет 1 случай на 4 500-5 000 новорожденных [1,2]. Согласно современной классификации, в основу которой положен ци-тогенетический принцип, выделяют НФП с муж-ским кариотипом (46,ХY), женским кариотипом (46,XX) и патологией половых хромосом [3].…”

“…Кроме того, у пациентов с НФП имеет место высокий риск развития герминативноклеточных опухолей, что определяет необходимость выра-ботки терапевтической тактики, направленной на минимизацию онкологических рисков [1,4].…”

Management framework paradigms for disorders of sex development

“…In addition, some articles also emphasize the need to include the child in the decision-making, and to adjust the medical terms to lay language (3,11,12,(16)(17)(18)22,35,(40)(41)(42)(43)(44)(45)(46)(47).…”

“…Extensive research on hormonal influences started appearing as important determinants of gender behavior and identity in patients with DSD (21)(22)(23)(24)(25)(26)(27)(28)(29), as well as reviews of long-term consequences for patients treated under the previously presented regimen, showing that many of them were not satisfied with their treatment or their assigned sex (30)(31)(32)(33)(34)(35)(36)(37)(38). Until then, the policy used to justify the designation of a child as being a female was based on the technical limitations of the surgery, that is, on the belief that it was "easier" to construct a vagina than a penis.…”