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Endocrine Care: Miroslav Dumic, Karen Lin-Su, Natasha I. Leibel, Srecko Ciglar, Giovanna Vinci, Ruzica Lasan, Saroj Nimkarn, Jean D. Wilson, Ken McElreavey, and Maria I. New Report of Fertility in a Woman with a Predominantly 46,XY Karyotype in a Family with Multiple Disorders of Sexual Development J Clin Endocrinol Metab 2008; 93: 182-189 [Abstract] [Full text] [PDF]

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XY fertile human females

Mark A Italiano   (5 August 2008)

XY fertile human females 5 August 2008
Mark A Italiano, scientific researcher Organisation Intersex International Send letter to journal: Re: XY fertile human females profmital{at}yahoo.com Mark A Italiano	I read with interest this article on fertility in an 46,XY woman by Dumic et al. (1). However, I believe that the authors here have made three errors in their report. First, they write that there are "no reports of fertility in a 46,XY woman" (p. 182). However, a fertile 46,XY woman who had a normal baby has been reported by Yu et al. (2) in their series on XY gonadal dysgenesis. One of their patients had a XY karyotype, no alteration in the SRY gene sequence, and bilateral ovaries. Second, the authors, when referring to 46,XY/45,X mosaicism, state "bilateral ovaries or unassisted pregnancy has not previously been reported in this form of mosaicism" (p. 187). This is also incorrect, as a case of 45,X/46,XY has been reported by Ye et al., in a woman with bilateral ovaries. (3) Finally, the authors, while noting the transmission of the Y chromosome through the sperm in their patient, state that "this excludes involvement of the nonrecombining male-specific portion of the Y chromosome" as the cause of sex reversal (p. 188). However, in the Akodon mouse model, fertile XY females have been reported (4); some even transmit the Y. This is suggested to be the result of inactivation of a male-specific portion of the Y chromosome. These XY females have higher fertility rates than their XX female counterparts, suggesting that this may be an animal model for a comparable condition in humans, the prevalance of which is not known. If so, this would also imply it is not a disorder, but simply a variation. References 1. Dumic M, Lin-Su K, Leibel NI, Ciglar S, Vinci G, Lasan R, Nimkarn S, Wilson JD, McElreavey K, New MI. 2008 Report of Fertility in a Woman with a Predominantly 46,XY Karyotype in a Family with Multiple Disorders of Sexual Development. J Clin Endocrinol Metab 93:182-189 2. Yu Q, Huang S, Ye L, Feng L, He F, Ye J, Gu C, Quinsheng GE 2001 The role of sexual related Y gene detection in the diagnosis of patients with gonadal dysgenesis. Chinese Medical J (Eng) 114:128-131 3. Ye LZ, Lu CY, Cheng ZY 1987 Clinical and cytogenetic study of a case of 45,X/46,XY Turner syndrome. Chinese Medical J (Eng) 100:73-77 4. Bianchi NO 2002 Akodon sex reversed females: the never ending story. Cytogenet Genome Res 96:60-65