A case report of an incidental finding of a 46 XX SRY negative male with masculine phenotype during standard fertility workup with review of the literature and …

Capsule:
An incidental finding of a 46,XX SRY-negative phenotype was discovered during routine infertility investigations. We describe the case and propose clinical management guidance for the comprehensive management of this rare condition.

Authors:
Neil A.J. Ryan, M.B., Ch.B. Shahnaz Akbar, M.R.C.O.G. Emma Wakeling, M.D.

Volume 99, Issue 5, Pages 1273-1276, April 2013

Abstract:

Objective:
To describe and explore the current literature of the rare genetic condition of 46xx SRY negative males. In addition we propose comprehensive clinical guidelines in the management of this condition to aid fertility clinicians in their management of affected individuals.

Design:
Case report with expert consensus derived clinical management guidance.

Setting:
Fertility outpatients’ clinic at a tertiary referral center in the United Kingdom.

Patients:
A 40-year-old male find to have 46xx DSD on routine fertility screening.

Interventions:
A review of the literature, expert consulatation and formulation of comprehensive clinical guidance.

Main outcome measures:
We report an interesting and rare care of a phenotypical male with the karyotype 46XX DSD without an SRY region. There is limited literature exploring this condition and its etiology remains poorly understood. There is currently no clinical guidance available for fertility clinicians to follow when treating this condition.

Results:
A male phenotype with a 46 karyotype without the Sex defining region of the Y chromosome.

Conclusions:
A multidisciplinary approach should be adopted in the management of 46 XX individuals. All patients with azoospermia must be karyotyped. Sperm donation remains the only fertility treatment available. 46 XX patients need life long follow up lead by an endocrinologist with regular imaging of the gonads, bone density measurements, baseline blood tests and testerone supplementation. Psychological support is a key part of a holistic approach.

  • Thanks for the case report. We had a gentleman present with azoospermia and found to have 46,XX when I was in fellowship. However, his testosterone was much higher (250 range), had had larger testicles, and was Tanner stage 5. The reference lab that ran the initial genetic screening for the karyotype and Y-linked microdeletion called us to make sure that we did not send the wrong specimen from a female.

    Because of the lack of information as to the natural progression of these patients, it was very difficult to counsel this patient as to his future.

    I think we need to create a central genetic/infertility repository where we can keep these case report patients and follow their long term health and document the natural progression of these men. With increased knowledge of this genetic condition, we can then track their potential health problems and treat them proactively, like for the men with Klinefelters syndrome. Clinical guidelines can then be formulated for treatment.

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