Report of Fertility in a Woman with a Predominantly 46,XY Karyotype in a Family with Multiple Disorders of Sexual Development

Dumić, Miroslav; New, Maria I.; Lin‐Su, Karen; McElreavey, Ken; Leibel, Natasha; Ciglar, Srećko; Nimkarn, Saroj; Vinci, G; Wilson, Jean Amos; Lasan, Ružica

doi:10.1007/978-1-4419-8002-1_36

Cited by 11 publications

(9 citation statements)

References 13 publications

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“…Similar to the many earlier reports of Swyer syndrome, our patient had primary amenorrhea with high gonadotropin levels and small ovaries without any Turner stigmata; however, normal estrogen levels, stage V breast development and spontaneous menstrual cycles that developed during follow-up were quite different and noteworthy. To our knowledge, spontaneous breast development was reported in only five cases with Swyer syndrome ( 4 , 5 , 6 , 7 , 8 ). Normal estrogen levels in patients with gonadal dysgenesis were hypothetically attributed to several mechanisms including i) production of estrogens by streak gonads at the time of puberty, ii) peripheral conversion of androgens to estrogens and iii) increased sensitivity of breast tissue to estrogens ( 4 , 8 , 13 , 14 ).…”

Section: Discussionmentioning

confidence: 89%

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An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation

Çatlı¹,

Alparslan²,

Can³

et al. 2015

Jcrpe

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46,XY pure gonadal dysgenesis (Swyer syndrome) is characterized by normal female genitalia at birth. It usually first becomes apparent in adolescence with delayed puberty and amenorrhea. Rarely, patients can present with spontaneous breast development and/or menstruation. A fifteen-year-old girl presented to our clinic with the complaint of primary amenorrhea. On physical examination, her external genitals were completely female. Breast development and pubic hair were compatible with Tanner stage V. Hormonal evaluation revealed a hypergonadotropic state despite a normal estrogen level. Chromosome analysis revealed a 46,XY karyotype. Pelvic ultrasonography showed small gonads and a normal sized uterus for age. SRY gene expression was confirmed by multiplex polymerase chain reaction. Direct sequencing on genomic DNA did not reveal a mutation in the SRY, SF1 and WT1 genes. After the diagnosis of Swyer syndrome was made, the patient started to have spontaneous menstrual cycles and therefore failed to attend her follow-up visits. After nine months, the patient underwent diagnostic laparoscopy. Frozen examination of multiple biopsies from gonad tissues revealed gonadoblastoma. With this report, we emphasize the importance of performing karyotype analysis, which is diagnostic for Swyer syndrome, in all cases with primary or secondary amenorrhea even in the presence of normal breast development. We also suggest that normal pubertal development in patients with Swyer syndrome may be associated with the presence of a hormonally active tumor.

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Section: Discussionmentioning

confidence: 89%

“…Classically, hypergonadotropic hypogonadism leads to absence of spontaneous breast development and of menstruation. However, we encountered reports of five cases with spontaneous breast development ( 4 , 5 , 6 , 7 , 8 ) and four cases with spontaneous menstrual cycles ( 4 , 7 , 9 , 10 ) in the literature.…”

Section: Introductionmentioning

confidence: 99%

An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation

Çatlı¹,

Alparslan²,

Can³

et al. 2015

Jcrpe

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“…Supporting the need for accurate information about ovarian function in TS + Y, infertility has been reported as the most significant stressor to patients with TS. 15 Infertility and abnormal pubertal development are also the most commonly cited reasons for couples electing termination of a pregnancy confirmed to have TS. 16 Little evidence is available about hormone function and fertility potential in women with TS + Y.…”

Section: Introductionmentioning

confidence: 99%

Turner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy

Dabrowski

Johnson

Patel

et al. 2020

Journal of Pediatric and Adolescent Gynecology

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Study Objective: Girls with Turner syndrome with Y-chromosome material (TS + Y) are assumed to have nonfunctional gonads with increased tumor risk, therefore prophylactic gonadectomy is recommended at diagnosis. In this study we aimed to determine rates of spontaneous thelarche (ST) and spontaneous menarche (SM), and prevalence of gonadal tumor and malignancy in girls with TS + Y, to further inform discussions about gonadectomy. Design: Retrospective review of clinical and pathology data. Setting: Multicenter study involving 4 United States children's hospitals. Participants: Patients included those with a genetically proven diagnosis of TS + Y and phenotypically female genitourinary exam.

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“…However, patients can also present with spontaneous breast development and/or menstruation, which may delay the diagnosis. To our knowledge, spontaneous breast development was reported in only five cases with Swyer syndrome [5][6][7][8][9] and four cases with spontaneous menstrual cycles 5,[8][9][10][11] in the literature. Normal estrogen levels in patients with gonadal dysgenesis were hypothetically attributed to several mechanisms including (i) Production of estrogens by streak gonads at the time of puberty, (ii) peripheral conversion of androgens to estrogens, and (iii) increased sensitivity of breast tissue to estrogens.…”

Section: Discussionmentioning

confidence: 99%

Successful Conception and Delivery in an Unusual Case of 46,XY Pure Gonadal Dysgenesis with Spontaneous Breast Development, Menses, and Bilateral Hydrosalpinx

Nadkarni¹

2016

International Journal of Infertility &Amp; Fetal Medicine

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Aim To study unusual presentations of 46XY pure gonadal dysgenesis (Swyer syndrome), implications of delayed diagnosis, importance of karyotype and early gonadectomy and pregnancy outcome with ART. Background To report a case of Swyer syndrome with spontaneous breast development, menses and bilateral hydrosalpinx with Successful pregnancy outcome. Case description 30 years old lady presented with primary infertility, secondary amenorrhea and normal secondary sexual characters. Sonography revealed small uterus with atrophic ovaries and B/L hydrosalpinx. Hormonal profile showed hypergonadotrophic hypogonadism and Karyotype was 46XY. Laparoscopic salpingectomy and gonadectomy was done. Histopathology revealed streak gonads with no evidence of malignancy and diagnosis of 46XY disorder of sexual development (DSD)/ Swyer syndrome was made. After endometrial preparation with ethinyl estradiol, patient conceived with allogenic oocytes and delivered preterm twins vaginally at 31 weeks. Conclusion Patients with Swyer Syndrome usually present at adolescence with delayed puberty and/or primary amenorrhea. However they can present late with secondary amenorrhea or just irregular, infrequent menses or primary infertility. Karyotype is mandatory in such cases and early gonadectomy improves long term survival as incidence of malignancy in the dysgenetic gonad is high. Incipient malignancy is usually the source of estrogen in patients with normal secondary sexual characters. Hypoplastic uterus is responsive to estrogen therapy in terms of enlargement and endometrial preparation and also this uterus may have the ability to respond to the process of labor and these patients can deliver vaginally. Clinical significance Early diagnosis and timely management of patients with dysgenetic gonads is important. Pregnancy is possible with allogenic oocytes. Genetic counseling and long term follow-up is required. How to cite this article Singh P, Kalra A, Nadkarni PK, Nadkarni K. Successful Conception and Delivery in an Unusual Case of 46,XY Pure Gonadal Dysgenesis with Spontaneous Breast Development, Menses, and Bilateral Hydrosalpinx. Int J Infertil Fetal Med 2016;7(2):58-60.

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Report of Fertility in a Woman with a Predominantly 46,XY Karyotype in a Family with Multiple Disorders of Sexual Development

Cited by 11 publications

References 13 publications

An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation

An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation

Turner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy

Successful Conception and Delivery in an Unusual Case of 46,XY Pure Gonadal Dysgenesis with Spontaneous Breast Development, Menses, and Bilateral Hydrosalpinx

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