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INTRODUCTION

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Case 1: Ms. Omotoya Bamidele is a 28-year-old medical student of Yoruban origin who presented to her OB/GYN with difficulty in vaginal intercourse. She describes painful intercourse, and says that her vagina is too small. Her family is originally from Nigeria and her parents had nine children, all girls, three of which are in their 30s and unable to have children. Her sisters are unwilling to discuss their infertility, although she describes them as phenotypic females. Ms. Bamidele does not remember having a menstrual period, but did not seek medical care as she felt fine. At the age of 19, her gynecologist could not identify a cervix, and transabdominal ultrasound did not reveal the presence of uterus. She was told that she can never have children, but her parents did not want to pursue further evaluation, believing that everything would be fine. Her current physical examination was significant for scant axillary hair, normal breast development, normal labia and clitoris, with a short vaginal length of 5 cm and absence of cervix. Bimanual exam could not palpate a uterus. Although her major complaint was difficult intercourse, she wondered why she could not have children. What investigation would you pursue in order to make the diagnosis?

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Disorders of sexual differentiation raise questions involving the multiple components of sexuality. Various related terms and definitions have become part of medical vocabulary.

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Biological sex refers to an individual's intrinsic biological status as male or female based on karyotype, internal reproductive organs, and external genitalia. Often, the first question that expectant parents want to discuss is whether their child will be a boy or a girl. Biological sex disorders can present in utero. If so, they are usually detected when there is a discrepancy between karyotype and observed external genitalia. One subset of sex disorders will present at birth with ambiguous genitalia, and some represent true emergencies, such as salt-wasting congenital adrenal hyperplasia. Another subset of sex differentiation disorders are not diagnosed until adulthood. Both sex-linked and autosomal genes govern sexual differentiation.

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It is important to understand that biological sex does influence gender and gender identity. Gender refers to the attitudes, feelings, and behaviors that a given culture associates with a person's biological sex, while gender identity refers to whether one identifies as being male, female, or transgender. A conflict between gender identity and biological sex may lead the individual to identify as transsexual.

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Sexual orientation refers to the sex of those to whom one is sexually and romantically attracted. Gay men and lesbians are attracted to members of their own biological sex, heterosexuals are attracted to members of the other sex, and bisexuals are attracted to members of both sexes. Although we see sexual orientation in black and white terms, it can also be part of a continuum, and may differ at various stages of one's life. For example, some people may experience bisexual relationships ...

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