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 proposed immediate and long-term management guidance

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.

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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.

Read the full text at: http://www.fertstert.org/article/S0015-0282(12)02452-1/fulltext


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Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders. The journal publishes juried original scientific articles in clinical and laboratory research relevant to reproductive endocrinology, urology, andrology, physiology, immunology, genetics, contraception, and menopause. Fertility and Sterility® encourages and supports meaningful basic and clinical research, and facilitates and promotes excellence in professional education, in the field of reproductive medicine.

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