Fertility and pregnancy issues in a 46, XY (Swyer syndrome) patient in the face of ovarian cancer

Background In this paper we focus on 46, XY pure gonadal dysgenesis-Swyer syndrome. MethodsWe present the case of a 33-year old patient and the medical procedures enabling to achieve a pregnancy in the couple struggling with infertility.We analyzed patient’s medical history, scheduled further diagnostic and therapeutic procedures that included genetic tests and consultations, MRI (magnetic resonance imaging), laparoscopy, oncological risk assesment and possibilities of pregnancy.Results Patients medical history revealed her last menstrual period dated one year before she started searching for medical help. Due to a low AMH (anti-Muellerian hormone) level, genetic consultation and genetic tests were recommended. The patient was diagnosed with Swyer syndrome. She underwent laparoscopy to search for gonadal tissue. Histopathology of removed streak tissues revealed dysgerminoma. No metastases were found in a follow up MRI. The patient decided to participate in an egg donation program.Conclusions The diagnosis of karyotype containing Y chromosome in a phenotypical adult female patient raised as female demands optimal managing. It has to cover not only psychological and fertility aspects, but also the risk of development of gonadal tumors.

[1]  B. Anil,et al.  'Size does matter': Prophylactic gonadectomy in a case of Swyer syndrome. , 2019, Journal of gynecology obstetrics and human reproduction.

[2]  J. Słowikowska-Hilczer,et al.  Fertility outcome and information on fertility issues in individuals with different forms of disorders of sex development: findings from the dsd-LIFE study. , 2017, Fertility and sterility.

[3]  H. Ostrer,et al.  MAP3K1‐related gonadal dysgenesis: Six new cases and review of the literature , 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

[4]  R. Dada,et al.  Novel Heterozygous Genetic Variants in Patients with 46,XY Gonadal Dysgenesis , 2016, Hormone and Metabolic Research.

[5]  J. Taneja,et al.  Rare successful pregnancy in a patient with Swyer Syndrome , 2016, Case reports in women's health.

[6]  Y. Deng,et al.  Gonadal malignancy in 202 female patients with disorders of sex development containing Y-chromosome material , 2016, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

[7]  Dharshana Tharanga Kulathilake,et al.  A germ cell tumor in a patient with swyer syndrome with ambiguous genitalia , 2015, BMC Research Notes.

[8]  S. Kelekci,et al.  An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation , 2015, Journal of clinical research in pediatric endocrinology.

[9]  J. P. van der Voorn,et al.  WT1 Deletion Leading to Severe 46,XY Gonadal Dysgenesis, Wilms Tumor and Gonadoblastoma: Case Report , 2015, Hormone Research in Paediatrics.

[10]  V. Sutton,et al.  State of the art review in gonadal dysgenesis: challenges in diagnosis and management , 2014, International Journal of Pediatric Endocrinology.

[11]  N. Zech,et al.  Unexpected labor and successful twin birth to a pure gonadal dysgenetic woman , 2013, Archives of Gynecology and Obstetrics.

[12]  E. Karaca,et al.  A complete gonadal dysgenesis case with mental retardation, congenital hip dislocation, severe vertebra rotoscoliosis, pectus excavatus, and spina bifida occulta. , 2013, Journal of pediatric and adolescent gynecology.

[13]  G. Creatsas,et al.  Successful pregnancy in a Swyer syndrome patient with preexisting hypertension. , 2011, Fertility and sterility.

[14]  L. Tulić,et al.  Pregnancy in patient with Swyer syndrome. , 2011, Fertility and sterility.

[15]  G. Luleci,et al.  Complete gonadal dysgenesis 46,XY (Swyer syndrome) in two sisters and their mother's maternal aunt with a female phenotype. , 2011, Fertility and sterility.

[16]  Mei Li,et al.  Twin delivery of a 46,XY gonadal dysgenetic woman following vitrified oocytes donation. , 2011, Chinese medical journal.

[17]  A. Sinclair,et al.  Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis , 2011, PloS one.

[18]  E. Schoenle,et al.  Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. , 2009, American journal of human genetics.

[19]  M. Fritz,et al.  A case report of successful pregnancy in a patient with pure 46,XY gonadal dysgenesis. , 2008, Fertility and sterility.

[20]  L. Michala,et al.  Swyer syndrome: presentation and outcomes , 2008, BJOG : an international journal of obstetrics and gynaecology.

[21]  P. Daggett,et al.  Successful pregnancy in a pure gonadal dysgenesis with karyotype 46, XY patient (Swyers syndrome) , 2007 .

[22]  Yu‐Shih Yang,et al.  Successful pregnancy in a gonadectomized woman with 46,XY gonadal dysgenesis and gonadoblastoma. , 2005, Fertility and sterility.

[23]  H. Ostrer,et al.  Clinical review 111: familial sex reversal: a review. , 2000, The Journal of clinical endocrinology and metabolism.

[24]  P. Elliott,et al.  Inherited Cardiac Muscle Disorders: Hypertrophic and Restrictive Cardiomyopathies , 2018 .

[25]  K. Bendre,et al.  A rare case of Swyer’s syndrome , 2013 .