Category: Reproductive Endocrinology

Monitor: 4


Saturday, Apr 27
10:30 AM – 11:00 AM

Objective :

To describe a case of Turner syndrome with a 46,XY genotype by 5 cell karyotype who was subsequently found to have a mosaic genotype of 18% 45,X and 82% 46,XY by 50 cell FISH analysis. This case represents an extreme example where the genotype is predominately 46,XY and the phenotype typical of Turner syndrome.

Methods :

A case of a 38 year-old gravida 1 para 0010 Russian female presented with irregular menses every 2-3 months and a 15 year history of infertility is described.

Results :

On exam the patient had normal female secondary sex characteristics with Tanner stage V breast development and Tanner stage V pubic hair growth, a normal vagina and cervix, and no hirsutism or clitoromegaly.

Laboratory studies showed premature ovarian insufficiency with a FSH level of 104.9 mIU/mL, a LH level of 35.5 mIU/mL, an estradiol level of < 5 pg/mL, and a total testosterone level of 

Due to the increased risk of gonadoblastoma the patient was offered and accepted laparoscopic bilateral gonadectomy and left salpingectomy (her right fallopian tube was surgically absent). On pathologic review, the bilateral gonads were found to possess hypoplastic ovarian tissue with two small ovarian serous cysts and no evidence of malignancy.

Discussion :

Turner syndrome patients with any genotype should undergo standard testing and treatment for cardiovascular, renal, metabolic, endocrine, vision, hearing, and bone mineral density abnormalities. If premature ovarian failure is diagnosed treatment with hormone replacement therapy is indicated until the typical age of menopause of 51 years old. Hormonal therapy with combined oral contraceptive pills is an acceptable alternative to standard hormonal replacement therapy in patients who prefer contraceptive pills. 

For her osteoporosis the patient was prescribed calcium and vitamin D and she preferred to be on cyclic combined oral contraceptives rather than standard hormone replacement therapy.  She was counseled that pregnancy is an option for her through in vitro fertilization with donor eggs as previous case reports of patients with 45,X /46,XY mosaicism have shown successful term deliveries.

Conclusion :

This case demonstrates that Turner syndrome with low level mosaicism may be missed by conventional karyotype. Some females diagnosed with Swyer syndrome may actually have Turner syndrome with low level mosaicism. Approximately 70-80% of patients diagnosed with Swyer syndrome do not have SRY mutations and Turner syndrome with low level mosaicism may be the actual cause of gonadal dysgenesis in some of these patients. In cases where conventional karyotype results do not closely match the clinical presentation, FISH analysis for low level mosaicism may be informative.


Katherine McDaniel

Resident Physician
Department of Obstetrics and Gynecology, LAC+USC Medical Center

Melody is a fourth year medical student at the Keck School of Medicine of USC. She is currently applying to residency and is looking forward to the new chapter.

Katherine McDaniel

University of Southern California

Katherine McDaniel is a second year Ob/Gyn resident at the University of Southern California. She attended UC Irvine medical school and Boston College for her undergraduate studies.

Michael Awadallah

Reproductive Endocrinology Fellow
University of Southern California

Michael Awadallah is a first year reproductive endocrinology fellow at the University of California. He completed his residency training at Wayne State where he was chief resident. He attended University of Cincinnati for medical school and Northwestern for his undergraduate studies.

Karine Chung

Associate Professor of Clinical Obstetrics & Gynecology; REI Chief, Research Program; Director, Fertility Preservation Program
University of Southern California

Dr. Chung completed her subspecialty training in Reproductive Endocrinology and Infertility focusing on the most advanced aspects of infertility diagnosis and treatment. During her fellowship, she simultaneously earned a Master’s degree in Clinical Epidemiology conducting research on outcomes of in vitro fertilization. She is board-certified in both Obstetrics and Gynecology and Reproductive Endocrinology and Infertility.

Dr. Chung also holds the title of Assistant Professor of Obstetrics and Gynecology in the Division of Reproductive Endocrinology and Infertility at the University of Southern California Keck School of Medicine, where she teaches and mentors trainees in the fields of obstetrics, gynecology, reproductive endocrinology and infertility. She is founder and director of USC’s Fertility Preservation Program and is also Principal Investigator of a number of clinical research projects including egg freezing, novel methods for IVF stimulation, and outcomes of gestational surrogacy. It is her goal to connect with her patients and help make their experience with fertility treatment a warm, personal and successful one.

Melody Rasouli

Keck School of Medicine of USC
Los Angeles, California