Gonadal dysgenesis in phenotypic female subjects

A review of eighty-seven cases, with cytogenetic studies in fifty-three
      This paper is only available as a PDF. To read, Please Download here.


      The present study was undertaken to discover any correlations that may exist between specific karyotypes and phenotypic variations of gonadal dysgenesis. Eighty-seven cases of gonadal dysgenesis in phenotypic female subjects were reviewed. Fifty-three patients were studied cytogenetically. Twenty-eight patients had an XO karyotype; the remaining twenty-five were divided into small groups characterized by various abnormalities of one of the sex chromosome pairs or by mosaicism. Because of the small number of patients in each of the categories in the non-XO karyotype group, statistically valid comparisons were not possible. Eight XO/XX patients comprising the largest subgroup of the non-XO karyotypes were compared with the XO patients in an attempt to delineate the influence of the XX component on the Turner phenotype.
      The XX component apparendy had little modifying effect on short stature in this series but did have some effect on gonadal development. Spontaneous menstruation and breast development occurred in 29 per cent of the XO/XX patients but in none of the XO group. No correlation between clitoromegaly and karyotype could be made since a Y chromosome was identified in only one patient. Cardiovascular anomalies occurred with greater frequency in the XO group; aortic coarctation occurred exclusively in this group. Renal anomalies were evenly divided, whereas mental retardation was seen most frequently in patients with an isochromosome X component.
      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'


      Subscribe to The American Journal of Medicine
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect


        • Lisser H.
        • Curtis L.E.
        • Escamilla R.F.
        • Goldberg M.B.
        The syndrome of congenitally aplastic ovaries with sexual infantilism, high urinary gonadotropins, short stature and other congenital abnormalities. Tabular presentation of twenty-five previously unpublished cases.
        J. Clin. Endocrinol. 1947; 7: 665
        • Polani P.E.
        • Hunter W.F.
        • Lennox B.
        Chromosomal sex in Turner's syndrome with coarctation of the aorta.
        Lancet. 1954; 2: 120
        • Barr M.L.
        • Bertram E.G.
        A morphological distinction between neurones of the male and female, and the behaviour of the nucleolar satellite during accelerated nucleoprotein synthesis.
        Nature. 1949; 163: 676
        • Jost A.
        Sur les effets de la castration précoce de l'embryon mâle de lapin.
        Compt. rend. Soc. biol. 1947; 141: 126
        • Polani P.E.
        • Lessof M.H.
        • Bishop P.M.F.
        Colour-blindness in “ovarian agenesis” (gonadal dysplasia).
        Lancet. 1956; 2: 118
        • Danon M.
        • Sachs L.
        Sex chromosomes and human sexual development.
        Lancet. 1957; 2: 20
        • Ford C.E.
        • Jones K.W.
        • Polani P.E.
        • de Almeida J.G.
        • Briggs J.H.
        A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome).
        Lancet. 1959; 1: 711
        • Ferguson-Smith M.A.
        Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations.
        J. M. Genet. 1965; 2: 142
        • Moorhead P.S.
        • Nowell P.C.
        • Mellman W.J.
        • Battips D.M.
        • Hungerford D.A.
        Chromosome preparations of leukocytes cultured from human peripheral blood.
        Exper. Cell Res. 1960; 20: 613
        • Grumbach M.M.
        • Morishima A.
        Sex chromatin and the sex chromosomes: on the origin of sex chromatin from a single X chromosome.
        Acta cytol. 1962; 6: 46
        • Bayley N.
        • Pinnbau S.R.
        Tables for predicting adult height from skeletal age: revised for use with the Greulich-Pyle hand standards.
        J. Pediat. 1952; 40: 423
        • Greulich W.W.
        • Pyle S.I.
        Radiographic Atlas of Skeletal Development of the Hand and Wrist.
        Stanford University Press, Stanford1959
        • Steinbach H.L.
        Skeletal maturation and growth.
        in: 8th ed. Endocrine System and Selected Metabolic Diseases. vol. 4. Ciba Collection of Medical Illustrations, New York1965: 226
        • Todd T.W.
        8th ed. Atlas of Skeletal Maturation. C. V. Mosby Co, St. Louis1937
        • Hodges P.C.
        An epiphyseal chart.
        Am. J. Roentgenol. 1933; 30: 809
        • Klinefelter Jr., H.F.
        • Albright F.
        • Griswold G.C.
        Experience with a quantitative test for normal or decreased amounts of follicle stimulating hormone in the urine in endocrinological diagnosis.
        J. Clin. Endocrinol. 1943; 3: 529
        • Moss A.J.
        • Adams F.H.
        Problems of Blood Pressure in Childhood.
        Charles C Thomas, Springfield1962
        • Gordan G.S.
        • Overstreet E.W.
        • Traut H.F.
        • Winch G.A.
        A syndrome of gonadal dysgenesis: a variety of ovarian agenesis with androgenic manifestations.
        J. Clin. Endocrinol. 1955; 15: 1
        • Kaufman S.
        Vaginal bleeding in gonadal dysgenesis.
        Pediatrics. 1966; 37: 26
      1. Preger, L., Steinbach, H. L., Moscowitz, P., Scully, A. L. and Goldberg, M. B. Roentgenologic abnormalities in phenotypic females with gonadal dysgenesis. A comparison of chromatinpositive and chromatin-negative patients. Am. J. Roentgenol., in press.

        • Jesberg D.O.
        Vitreoretinal degeneration in Turner's syndrome.
        in: McPherson A. New and Controversial Aspects of Retinal Detachment. Hoeber Medical Division, New York1968: 127
        • Hutchings J.J.
        • Escamilla R.F.
        • Li C.H.
        • Forsham P.H.
        Li human growth hormone administration in gonadal dysgenesis.
        Am. J. Dis. Child. 1965; 109: 318
        • Stratton H.J.M.
        Gonadal dysgenesis and the ears.
        J. Laryng. & Otol. 1965; 79: 343
        • Forbes A.P.
        • Engel E.
        The high incidence of diabetes mellitus in 41 patients with gonadal dysgenesis, and their close relatives.
        Metabolism. 1963; 12: 428
        • Donaldson C.L.
        • Wegienka L.C.
        • Miller D.
        • Forsham P.H.
        Growth hormone studies in Turner's syndrome.
        J. Clin. Endocrinol. 1968; 28: 383
        • Haddad H.M.
        • Wilkins L.
        Congenital anomalies associated with gonadal aplasia. Review of 55 cases.
        Pediatrics. 1959; 23: 885
        • Bishun N.P.
        • Rashad M.N.
        • Morton W.R.M.
        • Mannion P.L.
        • Neely M.R.
        • Burke G.
        Chromosomal mosaicism in a case of repeated abortion.
        Lancet. 1964; 1: 936
        • Goldberg M.B.
        • Scully A.L.
        Gonadal malignancy in gonadal dysgenesis: papillary pseudomucinous cystadenocarcinoma in a patient with Turner's syndrome.
        J. Clin. Endocrinol. 1967; 27: 341
        • Toth F.
        • Feher L.
        Gonaddysgenesis és teratoblastoma.
        Orv. Hetil. 1961; 102: 1951
        • Leāo J.C.
        • Voorhess M.L.
        • Schlegel R.J.
        • Gardner L.I.
        X/XO mosaicisms in nine preadolescent girls. Short stature as presenting complaint.
        Pediatrics. 1966; 38: 972