“True agonadism”: A misnomer?

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].…”

Sex reversal and diaphragmatic hernia in phenotypically female sibs with normal XY chromosomes

“…In XY patients, agonadism has to be differentiated from XY pure gonadal dysgenesis (Swyer syndrome resulting from SRY mutations (MIM 306100)), in which the gonads are reduced to streaks but are present, and both external and internal genitalia are normal female. In XY patients, agonadism was termed embryonic testicular regression syndrome5 6because, from an embryological point of view, it may be the result of secondary precocious regression rather than true agenesis of the primary undifferentiated gonads. Thus, early testicular tissue action (anti-Müllerian hormone (AMH) and testosterone) could explain the range of virilisation in some agonadal XY patients.…”

Pseudohermaphroditism due to XY gonadal absence syndrome.

“…An identical pituitary response has been reported to as the XY gonadal agenesis syndrome (Sarto and Opitz, 1973). 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.…”