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We report a 20 year old case of partial androgen insensitivity syndrome, referred to our clinic with complaints concerning external genital organs and left undescended testicle. The phenotypically male case was first evaluated for secondary sex development. Axillary hair was scanty and no pubic hair was found. There was no breast development. In the gynecological examination, the clitoris was hypertrophic (4.6 cm) and a blind vagina with intact hymen was seen. Abdominopelvic ultrasonography revealed the absence of an uterus and adnexes which was supported by magnetic resonance imaging (MRI). There was a palpable mass in the left inguinal canal (cryptorchism), seen as atrophic tissue under the skin in MRI. Although the other testis was in the labioscrotal fold, it was atrophic. The Karyotype was 46 XY after genetic investigation.Yirmi yaşında erkek fenotipli hasta, polikliniğimize dış genital organlardaki farklılık ve sol inguinal bölgede ele gelen kitle şikayetiyle başvurdu. Olgu ilk olarak sekonder sex karekterleri açısından değerlendirildi. Pubik kıllanma olmamasına karşın seyrek aksiller kıllanma mevcuttu. Meme gelişimi yoktu. Jinekolojik muayenede hipertrofik klitoris (4.6 cm), intakt hymen ve kör vajen saptandı. Abdominopelvik ultrasonda uterus ve adneksler izlenmedi. Bunun üzerine hastaya MR çekildi ve sol inguinal bölgede kriptorşizm ile uyumlu testiküler doku cilt altında atrofik olarak izlendi. Diğer testis ise labioskrotal foldun içinde olup, atrofikti. Genetik inceleme yapıldı, karyotip 46 XY olarak saptandı.

We report a 20 year old case of partial androgen insensitivity syndrome, referred to our clinic with complaints concerning external genital organs and left undescended testicle. The phenotypically male case was first evaluated for secondary sex development. Axillary hair was scanty and no pubic hair was found. There was no breast development. In the gynecological examination, the clitoris was hypertrophic (4.6 cm) and a blind vagina with intact hymen was seen. Abdominopelvic ultrasonography revealed the absence of an uterus and adnexes which was supported by magnetic resonance imaging (MRI). There was a palpable mass in the left inguinal canal (cryptorchism), seen as atrophic tissue under the skin in MRI. Although the other testis was in the labioscrotal fold, it was atrophic. The Karyotype was 46 XY after genetic investigation.

REIFENSTEIN syndrome, or partial androgen insensitivity, is an X-linked form of male pseudohermaphroditism, which is characterised by hypogonadism, hypospadias, gynaecomastia, infertility and a normal XY karyotype.

多くの内分泌疾患が受容体異常症の概念で捉えられ注目されている.症例は20才男子.著明な女性化乳房,尿道下裂手術既往,染色体46XY,血中テストステロン, 5αジヒドロテストステロン,エストラジオール高値, LH・RH負荷正常,睾丸生検組織像などよりアンドロゲン不応症のReifenstein症候群と考えられた1例を報告した.本症の本邦報告例は十数例を認めるに過ぎない.

The affinity and turnover of the specific dihydrotestosterone binding protein have been assessed in fibroblasts cultured from genital skin from a variety of control subjects and from 4 patients with incomplete hereditary male pseudohermaphroditism due to androgen resistance (incomplete testicular feminization and Reifenstein syndrome). Whereas the amount of dihydrotestosterone binding in the 4 mutant cell strains is low, both the affinity of the protein for dihydrotestosterone as assessed by the concentration at which half-maximal binding occurs (averaging 0.2 nM) and the turnover of the binding protein (average half-life of 11--13 h) are within the normal range. Since no qualitative abnormality could be detected, these data suggest that the mutations in these two disorders affect the synthesis of the dihydrotestosterone binding protein.

A family with incomplete male pseudohermaphroditism inherited as an apparent X-linked recessive trait was investigated. The phenotype in 11 affected family members ranged from a minimal de...

The development of insight into the pathogenesis of the Reifenstein syndrome illustrates an interesting development in the evolution of modern endocrinology. From their studies of the syndrome of pseudohypoparathyroidism, Fuller Albright and his colleagues, in 1942, developed the concept that endocrinopathies can result when circulating hormone levels are normal (or elevated) but resistance to the action of hormones exists at the target cell. Albright immediately recognized the theoretical implications of this concept and drew the analogy between pseudohypoparathyroidism and the Seabright-Bantam strain of chickens in which a female feathering pattern develops in an otherwise normal rooster with putatively normal androgen . . .