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- W2017761102 abstract "Camptomelic dwarfism (CD) is a syndrome of multiple characteristic skeletal malformations (including angulated tibiae), dwarfism, tracheomalacia, muscular hypotonia and early death. Both familial and sporadic occurrence have been described. There is a majority of fenotypically female individuals among the cases reported (20/25), although CD may occur in both sexes. Two cases of CD are presented, both with male karyotype but female fenotype. One died at 4 days of age, one at 11 months. Lab data at 1 month: LH 1.56 mIU/ral, FSH 16.2 mIU/ml, testosterone 0.05 ng/ml. Blood chemistry normal. At autopsy normal female genitalia were found. Microscopical examination of the ovaries revealed ovarian stroma containing tubules similar to the rete ovarii found in normal newborn girls, and occasional germ cells. Epiphyseal cartilage was structurally and biochemically abnormal; impaired growth of the cartilage but normal mineralization, and abnormal ratio of chondroitin-4-sulphate and -6-sulphate in the presence of high concentrations of collagen. The lack of testicular development might bo explained by a lack of a “testis organizing factor” (H-Y-atitigen?). In future, this easily recognized malformation syndrome should focus interest on the gonadal function and structure in these children, to test this hypothesis." @default.
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- W2017761102 date "1976-10-01" @default.
- W2017761102 modified "2023-10-18" @default.
- W2017761102 title "138: XY females with camptomelic dwarfism – lack of male gonadal differentiation coupled with abnormal cartilage" @default.
- W2017761102 doi "https://doi.org/10.1203/00006450-197610000-00129" @default.
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