These techniques are useful, but neither technique adequately detects large copy number variants, repetitive sequences, e. J Pediatr Urol. Hormone-replacement therapy is often required to induce and sustain puberty, induce secondary sexual characteristics and pubertal growth spurt, optimize bone mineral accumulation, and for psychosocial maturation in patients with DSD [ 58 ].
Biol Reprod. Archives of Disease in Childhood 26 July These receptors allow the hormones to interact with cells. Disorders of sex development DSDs may arise from genetic defects in testis or ovary determination. Boys born with an extra X chromosome are said to have Klinefelter syndrome.
UK Intersex Association. Schempp, and G. For some people, the cells of their body include more than one type of sex chromosome arrangement. It could also be because of exposure to chemicals that alter the hormonal environment. Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.
Evening Standard. Health Psychol. A family of rapidly evolving genes from the sex reversal critical region in Xp
Psychosocial care should be an integral part of management to promote positive adaptation. Any abnormal virilized or cushingoid appearance of the mother should be checked. Klinefelter syndrome is characterized by 47,XXY karyotype. Current recommendations emphasize sensitive, supportive interactions with families, and full disclosures of the risks, benefits, and potential outcomes of intervention to allow them to participate as fully as possible in decision making and in the continuing care of their child.
Orphanet Journal of Rare Diseases. In such cases, it is not always possible to tell right away differentiate whether the baby is a boy or a girl.