Endocrine and Metabolic Studies in an XY Patient with Gonadal Agenesis¹

Gonadal Agenesis in a 46, XY Female with Multiple Malformations and Positive Testing for the Sex-Determining Region of the Y Chromosome

“…In contrast to other cases of XY gonadal agenesis [ 19,22,28,39,40,42] with increased FSH, baseline gonado tropins had been elevated neither in our case, nor in two others [21,29]. It was speculated that prepubertal FSH and LH levels could be rather low in some agonadal chil dren due to an altered feedback inhibition [43].…”

“…Since, another pair of sibs [20] and more than 20 sporadic cases have been reported un der various nomenclatures (i.e. XY gonadal agenesis [28], embryonic testicular regression syndrome [32], early fetal testicular dysgenesis [33] and vanishing testis [26]). Agonadism and anorchia have been described in the same sibship.…”

Pseudohermaphroditism due to XY gonadal absence syndrome.

“…The clinical and endocrine features observed in the patient reported in this paper are identical to those found in a similar case previously reported by our group (Rios et al, 1974). Both cases correspond to the incomplete type I form of gonadal absence.…”

“…Parks et al (1974) have reviewed the clinical course of the reported cases of patients with this syndrome and pointed out the importance of endocrine gonadal studies, and suggested the possibility that this syndrome represents a form of dysgenetic male pseudohermaphroditism with a scant amount of functioning testicular tissue. Very recently we have demonstrated in such an adult patient a complete lack of testicular steroidogenesis, with a concomitant increase in the circulating levels of pituitary gonadotrophins (Rios et al, 1974).…”

“…A great variability in both the internal and osterone were external genitalia has been found in the few patients esemble those studied with this abnormality, and genetic and estradiol levels endocrine studies have been carried out only "the employed recently (Overzier and Linden, 1956;Schoen, King, i, a lack of and Baritell, 1955;Philipp, 1956; Chaptal and one increase as Pages, 1958;Harnden and Stewart, 1959;Dewhurst, ved in normal Paine, and Blanck, 1963;Overzier, 1963;Emson ta clearly show and Buckwold, 1965;Rath, Scheibenreiter, and cells in this Thalhammer, 1968;Parks et al, 1974;Rios et al, 1974 intrauterine life may result in the clinical features of this syndrome. Therefore, we should like to propose the term 'XY gonadal absence syndrome' to designate this abnormality.…”