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Fulltext Swyer syndrome in a woman with pure 46, XY gonadal dysgenesis and a hypoplastic uterus

Azidah A, Nik Hazlina N, Aishah M

Malays Fam Physician, 2013;8(2):58-61.
PMID: 25606286 MyJurnal

Swyer syndrome or pure 46, XY gonadal dysgenesis is a condition in which the individuals have female appearance. They classically present as sexually infantile phenotypic females with primary amenorrhoea. People with this disorder have female external genitalia but the uterus and fallopian tubes are underdeveloped. However, they do not have functional gonads (ovaries or testes). Instead, they have streak gonads. We are reporting a case of Swyer syndrome with partially developed breasts, hypoplastic uterus, and absent streak gonads. The patient was treated with hormonal therapy and few years after her presentation, breast and uterine development were noted. In view that the patient is already married, the option of fertility was discussed with her. This case illustrates a rare case of gonadal dysgenesis and demonstrates the importance of counseling on the options of treatment, especially regarding fertility.

Matched MeSH terms: Gonadal Dysgenesis; Gonadal Dysgenesis, 46,XY
Fulltext Role of laparoscopy and ultrasound in the management of "impalpable testis" in children

Budianto IR, Tan HL, Kinoshita Y, Tamba RP, Leiri S, Taguchi T

Asian J Surg, 2014 Oct;37(4):200-4.
PMID: 24661449 DOI: 10.1016/j.asjsur.2014.01.013

Undescended testes is one of the most common congenital abnormalities in boys. In cases of impalpable testes, ultrasound is often used to find the testis, which frequently provides false-negative results. Recently, laparoscopy has become popular in the management of impalpable testes.

Matched MeSH terms: Gonadal Dysgenesis, 46,XY/diagnosis*; Gonadal Dysgenesis, 46,XY/ultrasonography*
Prophylactic gonadectomy in 46 XY females; why, where and when?

Basri NI, Soon CH, Ali A, Abdul Ghani NA, Zainuddin AA

Horm Mol Biol Clin Investig, 2021 Mar 08;42(3):325-328.
PMID: 33675193 DOI: 10.1515/hmbci-2021-0001

OBJECTIVES: We compared cases of phenotypic female patients who presented with male karyotype and underwent prophylactic gonadectomy.
CASE PRESENTATION: Five patients with female phenotypes presented in early adulthood with primary amenorrhoea with varying degrees of puberty. One was tall with breast development. Another was very short with clitoromegaly and multiple co-morbidities. The other three had no secondary sexual characteristics. They were examined, after which hormonal profile, karyotyping, ultrasound examination and magnetic resonance imaging were done to assess the site of gonads. Gonadectomy was performed once their 46 XY karyotype was confirmed. Results of histopathological examination of their gonads ranged from dysgenetic gonads to having testicular tissues and malignancy.
CONCLUSION: Female patients with 46 XY karyotypes require prophylactic gonadectomy performed at different timings depending on diagnosis due to the malignancy risk. Pre-operative assessment is essential to locate the gonads prior to surgery.

Matched MeSH terms: Gonadal Dysgenesis, 46,XY/diagnosis; Gonadal Dysgenesis, 46,XY/surgery*
Cytogenetic profile of patients with clinical spectrum of ambiguous genitalia, amenorrhea, and Turner phenotype: A 21-year single-center experience

Elkarhat Z, Belkady B, Charoute H, Zarouf L, Razoki L, Aboulfaraj J, et al.

Am J Med Genet A, 2019 08;179(8):1516-1524.
PMID: 31207162 DOI: 10.1002/ajmg.a.61257

The aim of the present study was to determine the frequency and nature of chromosomal abnormalities involved in patients with the clinical spectrum of ambiguous genitalia (AG), amenorrhea, and Turner phenotype, in order to compare them with those reported elsewhere. The study was conducted in the Cytogenetic Department of Pasteur Institute of Morocco, and it reports on the patients who were recruited between 1996 and 2016. Cytogenetic analysis was performed according to the standard method. Among 1,415 patients, chromosomal abnormalities were identified in 7.13% (48/673) of patients with AG, 17.39% (28/161) of patients with primary amenorrhea (PA), 4% (1/25) of patients with secondary amenorrhea, and 23.20% (129/556) of patients with Turner phenotype. However, Turner syndrome was diagnosed in 0.89% (6/673) of patients with AG, 10.56% (17/161) of patients with PA, and 19.78% (110/556) of patients with Turner phenotype. In addition, Klinefelter syndrome and mixed gonadal dysgenesis were confirmed in 2.97% and 1.93% of patients, respectively, with AG, while, chimerism, trisomy 8, and trisomy 13 were confirmed only in 0.15% each. Trisomy 21 was confirmed in patients with AG and Turner phenotype (0.15% and 0.36%, respectively). Moreover, 5.60% (9/161) of patients with PA have been diagnosed as having sex reversal. Thus, the frequency of chromosomal abnormalities observed in Moroccan patients with PA is comparable to that reported in Tunisia, Turkey, Iran, and Hong Kong. However, the frequency is significantly less than that identified in India, Malaysia, Italy, and Romania.

Matched MeSH terms: Gonadal Dysgenesis, Mixed/genetics; Gonadal Dysgenesis, Mixed/epidemiology; Gonadal Dysgenesis, Mixed/pathology
Successful pregnancy outcome following gamete intra-Fallopian transfer in a patient with Müllerian dysgenesis

Lee CS, Lie AT

Reprod Biomed Online, 2012 May;24(5):547-9.
PMID: 22410277 DOI: 10.1016/j.rbmo.2012.01.021

A 29-year-old lady with Müllerian dysgenesis was keen to have a baby. Clinically, she was medium built with well-developed secondary female sexual characteristics. There was a short and blind vagina. She had undergone surgery for an imperforated hymen. Her FSH and LH concentrations were normal. Laparoscopy revealed a patent right Fallopian tube, a rudimentary right uterus and extensive pelvic endometriosis. She subsequently underwent gamete intra-Fallopian transfer (GIFT). Oocyte retrieval was carried out laparoscopically and a total of nine oocytes were retrieved. Four of the oocytes were transferred together with motile spermatozoa into the right Fallopian tube and the remaining five oocytes were inseminated with spermatozoa for IVF. Three embryos resulted and were frozen. She subsequently developed moderate ovarian hyperstimulation syndrome. Serum β-human chorionic gonadotrophin concentration 14 days after GIFT was 1612 IU/l. Her antenatal care was relatively uneventful until 31 weeks of gestation when she was diagnosed to have intrauterine growth retardation and oligohydramnios. She then underwent an emergency Caesarean section at 32 weeks of pregnancy delivering a normal baby. This case study describes a successful pregnancy outcome following gamete intra-Fallopian transfer (GIFT) in a woman with malformation of the vagina (Müllerian dysgenesis). A 29-year-old lady with Müllerian dysgenesis diagnosed at 16 years of age was keen to become pregnant. Upon examination, a decision was made for a William's vulvovaginoplasty but as the patient was indecisive the surgery was deferred. Clinically, she is a medium-built lady with well-developed secondary female sexual characteristics. There was a short and blind vagina. Her serum FSH and LH concentrations were normal. Laparoscopy revealed a patent right Fallopian tube, a rudimentary right uterus and extensive pelvic endometriosis. She subsequently underwent GIFT. Nine oocytes were retrieved through laparoscopy. Four of the oocytes were transferred together with motile sperm into the right Fallopian tube and the remaining five oocytes were inseminated with sperm for IVF. Three embryos resulted and were frozen. Serum β human chorionic gonadotrophin concentration measured 14 days after GIFT was 1612 IU/l. An abdominal ultrasonography performed at 5 weeks showed one intrauterine gestational sac. Her antenatal care was uneventful until 31 weeks of gestation when she developed a deficiency of amniotic fluid in the amniotic sac. She then underwent an emergency Caesarean section at 32 weeks of pregnancy. She delivered a healthy, normal 1.24 kg baby boy. Her post-natal care was uneventful.

Matched MeSH terms: Gonadal Dysgenesis, 46,XX/complications*