reifenstein syndrome…

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male reproductive system, partial androgen insensitivity syndrome, incomplete male pseudohermaphroditism, reifenstein syndrome, inherited disorder that causes, underdevelopment, the male reproductive tract, sexual dysfunction in males, includes an inability to make sperm, undescended testicles, testicles, not descend, scrotum, development of breasts, testicular feminization, reifenstein syndrome is one of a group of diseases, the body is unable to respond appropriately, male sex hormones, androgens, testosterone, in this genetic disease, gene codes, the androgen receptor, allows cells, androgens, particular mutation makes the cells less responsive to these hormones, hence the alternative name, partial androgen insensitivity syndrome, normal fetal development, male hormones, androgens, made by the testes of male fetuses, male sexual organs develop, hormones cannot be processed, a result of a genetic mutation, in the androgen receptor, probelems occur, the development, the male sex organs, at birth, confusion over the sex, the baby, due to ambiguous genitalia, disease is inherited in an x-linked recessive manner, that women, not affected but, carry the gene, males who inherit the gene from mothers, have the condition, 1 in 2, 50%, chance that a male child of a carrier mother, family history is important in determining risk factors, estimated to affect 1 in 99,000 people, abnormal male genitals, undescended testes, a small scrotum, a line down the middle, bifid, incompletely closed, a small penis, hypospadias, urethra exits the body on the side, the penis, not the tip, breast development in males at time of puberty, infertility, decreased body hair, beard, normal pubic, armpit hair, male chromosomes, x,y, high testosterone, luteinizing hormone level in blood, absent sperm count, testicular biopsy shows no mature sperm despite normal precursors, decreased, absent vas deferens, tubes, sperm exit the testes, partial development of female gonads/sex organs, decreased ability to bind androgen in cell culture tests, mutations, in the androgen receptor gene, diagnosis, carrier detection, prenatal diagnosis, family history of affected males who share a common, unaffected female relative consistent, x-linked recessive inheritance, continuous testosterone treatment, improve the chance that a boy, grow up to be fertile, support, androgen insensitivity syndrome support group, aissg, intersex society of north america, isna, 4500 9th avenue ne, suite 300, seattle, wa 98105, phone, 206-633-6077, fax, 206-633-6049., androgens, most important, early development, in the womb, a male, reifenstein syndrome, normal lifespan, totally healthy, the exception of infertility, psychological problems related to gender identity, most severe cases, feminized external genitalia, an extremely small penis tend to cause psychological, emotional problems, boys, in these cases, parents have tried to raise people, reifenstein syndrome, girls, rarely effective, genital surgery, postponed, make an informed choice, numerous accounts of people, ambiguous genitalia who had surgery, infancy to feminize organs, it is easier to, this than to create male organs, who later feel maimed, infertility, failure to develop normal male gonads/genitals, breast development in men, a cosmetic concern, psychological problems, depression, son, a male family member has infertility, incomplete development of male external organs, despite high blood testosterone, genetic testing, counseling is available, strong suspicion that this disease is present, prenatal testing is available, known androgen receptor mutations, a family history of these conditions should consider genetic counseling, testosterone treatment that is started early, prevent some infertility.