Category: Reproductive Endocrinology

Monitor: 12

12 - A DISCLOSURE OF AN UNEXPECTED FINDING: A CASE OF COMPLETE GONADAL DYSGENESIS (46 XY) REVEALED BY GENETIC TESTING

Friday, Apr 26
11:00 AM – 11:30 AM

Objective :

Gonadal dysgenesis (GD) is a disorder of sexual development (DSD). This disorder occurs when the bipotential gonads fail to differentiate either completely or partially into testes in fetal development. Persons with GD may exhibit a wide spectrum of phenotypes. Given variability in presentation, the diagnosis of these disorders is difficult. Certain cultural perceptions, secrecy within families, lack of understanding, or informed consent present additional challenges to the diagnostic evaluation. In complete gonadal dysgenesis (CGD), individuals commonly present in adolescence. Rarely, will a diagnosis be made in adulthood. We present a case of a phenotypic female, who was found to have CGD as a secondary finding.


Methods : N/A


Results :

A 52-year-old female was referred for abnormalities detected on chromosomal analysis. Genetic testing was obtained for evaluation of mixed connective tissue disease. The patient reported that she was a term birth, normal weight and there were no complications during delivery. Following delivery, she required a hernia repair and partial hysterectomy. Then at four months of age, her ovary was removed. Early in adolescence, she recalls never undergoing menarche or thelarche, but did develop axillary and pubic hair. She was then started on combined OCP. At age 16 years, she then had a completion hysterectomy and oophorectomy. Her OCP was then changed to conjugated estrogen. She has been on varying doses of estrogen since that time. Labs with karyotype 46 XY. Testosterone obtained and was 26.5 ng/dL (Ref: 260-827 ng/dL), excluding androgen insensitivity syndrome. The findings of her chromosomal analysis were discussed and disclosed to her in detail, including the risk for developing gonadal malignancy and the need for bilateral oophorectomy, which was completed.


Discussion : This case presents unique challenges to the management of gonadal dysgenesis. It involves the disclosure of “incidental” findings to patients who have undergone genetic testing for other reasons. As genomic sequencing becomes more widely available, it is likely that there will be an unavoidable number of patients who have secondary findings. To date, there is no standardized method for reporting or disclosing these findings. Beyond this, making clinical decisions can be complex and can include whether to proceed with medical therapies such as hormone replacement, surgical treatments such as gonadectomy, or can involve discussing one’s diagnosis and offering healthcare and community support to patients.


Conclusion : Future guidelines should aim to address these unexpected findings, and consider the implications of genetic testing, in counseling adults with DSD.

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Katie Kaput

Endocrine Fellow
University of Utah
Salt Lake City, Utah

Clinical Interest - General Endocrinology

Marissa Grotzke

VA Medical Center, Endocrine Faculty
University of Utah

Clinical Interests - Endocrine Bone Mineral and Metabolism, Thyroid Cancer and Disorders of Sexual Development.