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Swyer syndrome is a disorder of sex development (DSD) 

first described by Dr Swyer in 1955.1 The incidence is 

1:80000.2 Mutation in several different genes cause 

Swyer syndrome or can be inherited as autosomal 

dominant, autosomal recessive, X-linked or Y- linked 

manner.3 

The patients with Swyer syndrome have pure gonadal 

dysgenesis with 46 XY karyotypes. They present with 

female phenotype, delayed puberty, and primary 

amenorrhoea. They have   normal looking external 

genitalia, vagina, hypoplastic uterus, tubes and streak 

dysgenetic gonads. The dysgenetic gonads may develop 

gonadoblastoma in 20-30 % of cases, usually bilateral, 

sometimes dysgerminoma and even embryonal cancer.4, 

5 Gonadectomy is advised as soon as the diagnosis is 

confirmed.6 The objective of reporting this case is to 

share experience with managing this rare disease as 

diagnosis and management is important due to chance 

of gonadal malignancy if not treated. 

CASE DESCRIPTION 

A 16-year-old reared as girl presented with primary 

amenorrhoea. On examination, she was female 

phenotype, having a height of 165 cm, weight of 51 kg, 

and breasts Tanner stage II. Her vulva appeared 

normal, with a hymenal opening, sparse axillary and 

pubic hair (FIGURE 1). There was no palpable mass in 

the abdomen. She was her parent’s only daughter, and 

Swyer syndrome: A rare case  

Hema Kumari Pradhan1, Ganesh Dangal1, Manoj Krishna Shrestha2 

1Department of Obstetrics and Gynaecology, Kathmandu Model Hospital, Kathmandu, Nepal 
2Department of Pediatric Surgery, Kathmandu Model Hospital, Kathmandu, Nepal 

 

Correspondence to: Dr. Hema Kumari Pradhan, Email: drhemapradhan@hotmail.com  

Received: 07 May 2023; Revised version received: 30 May 2023; Accepted:  03 Jun 2023; Published online: 26 Jun 2023 
Supplementary file, and peer review and author response: available at DOI: https://doi.org/10.3329/bsmmuj.v16i2.67241 

LEARNING POINTS  

1. In primary amenorrhoea, investigation should be done if there 

are no secondary sexual characteristics by the age of 13 

years. 

2. Secondary sexual characteristics appear  after gonadectomy 

(due to risk of gonadal malignancies) and hormone replace-

ment therapy.   

 

FIGURE 1 Local examination showing hymenal opening (left) and laparoscopic finding showing streak gonad, fallopian 
tube and small uterus (right) 

Bangabandhu Sheikh Mujib Medical University Journal 2023;16(2): 128-130       bsmmu.edu.bd 

CASE REPORT 



 

there was no such history in her family. 

Ultrasonography reported a small uterus (2.7 cm × 0.5 

cm ×0.9 cm) and non-visualization of ovaries. Her 

hormone test reports were as follows: estradiol 5 pg/ml, 

leutinizing hormone 5.07mIU/ml, follicle stimulating 

hormone 17.57 mIU/ml, and testosterone 0.03ng/ml 

which means she had hypergonadotrophic 

hypogonadism. Her thyroid function and prolactin were 

normal. She had 46XY karyotypes (FIGURE 2), which 

were reconfirmed from another laboratory. No other 

genetic analysis could be done. Her radiological age, as 

determined from X-Rays of both wrists, was 14-16 

years. Finally, she was diagnosed to have Swyer 

syndrome.  

CASE MANAGEMENT  

The parents were counseled about the diagnosis being 

gonadal dysgenesis and there is chance of 

gonadoblastoma. For this she needs gonadectomy 

followed by hormone replacement therapy (HRT) which 

will be started after the operation.  She can marry and 

have normal sexual life. For pregnancy donor egg will 

be required. The parents and the girl consented for 

operation. Laparoscopy done under general anesthesia 

which showed hypoplastic uterus, streak gonads and 

fallopian tubes on both side as shown in FIGURE 1. 

Bilateral gonadectomy along with removal of tubes was 

done. Histopathology revealed stroma in both gonads 

with no primordial follicles. After the operation, HRT 

was started. Initially 2 mg of estradiol was given daily 

for 3 month and medroxyprogesterone 10 mg daily for 

10 days. She had withdrawal bleeding and HRT was 

continued. On regular follow up, she was satisfied with 

withdrawal bleeding after medroxyprogestrerone. After 

one year of treatment, her breast size increased to 

Tanner lll. During the COVID-19 pandemic, she did not 

come for follow up. She informed over telephone that 

she stopped HRT and menstruation stopped too. After 

repeated counseling, she started her HRT and now is 

having withdrawal bleeding regularly. 

DISCUSSION 

Primary amenorrhoea is defined as the absence of 

menses by 13 years of age in the absence of secondary 

sexual characteristics or by the age of 15 years in the 

presence of normal secondary sexual characteristics.7 

Swyer syndrome, a pure gonadal dysgenesis is a rare 

cause of primary amenorrhoea.  Swyer syndrome results 

due to mutations in genes such as ARX, ATRX, 

CBX2,DHH, DMRT1, GATA4, MAMLD1, MAP3K1, 

NR0B1,NR5A1, SOX9, WNT4, WT1, WWOX, SRY, and 

WNT4 which affects testicular differentiation and 

inhibit anti-Mullerian hormone (AMH). The SRY gene 

is deleted in approximately 10–15%, and mutated in an 

additional 10–15%, of patients.8 Patients with Swyer 

syndrome are of female phenotype, tall or normal 

height, with insufficient pubertal development and 

having  primary amenorrhoea. Due to absence of AMH 

the Mullerian duct develops into uterus and tubes. As 

the XY gonads fail to develop into testes, there is no 

production of testosterone. As a result, they have female 

external genitalia with hymenal opening. Hormonal test 

will show raised gonadotropins, decreased estrogen and 

normal female level androgens. Our patient also had 

hypergonatrophic hypogonadism. The differential 

diagnosis are androgen insensitivity syndrome with 

46XY karyotyping and true hermaphroditism. In 

androgen insensitivity syndrome, the breasts are well 

developed, have blind vagina, due to AMH the internal 

female organs are not formed, and testosterone is in 

normal male level.  In true hermaphroditism, ovotestes 

will be present. In our case, there was no ovarian and 

testicular tissue in the streak gonads. Another common 

cause of primary amenorrhoea is Mayer-Rokitansky-

Kuster-Hauser syndrome, where the karyotype is 46XX, 

with well-developed female secondary sexual 

characteristics, and absence or rudimentary uterus  or 

vagina.7 

Pradhan HK et al. Bangabandhu Sheikh Mujib Medical University Journal 2023; http://doi.org/10.3329/bsmmuj.v16i2.67241 

Swyer syndrome  129 

 

FIGURE 2 Karyotyping 46XY 



 

There is high risk of malignant gonadal tumour 

development in patients with female phenotype 

carrying Y chromosome. In Swyer syndrome, there is 

high chance of gonadoblastoma and dysgerminoma, so 

gonadectomy is advised as soon as diagnosis of Swyer 

syndrome is established.2 After gonadectomy, HRT is 

started for development of secondary sexual 

characteristics and menstruation. They can have normal 

sexual life and can have baby with donor oocyte.3 The 

limitation of this study was lack of  genetic analysis for 

mutant genes due to unavailability.  

To summarize, Swyer syndrome is a rare cause of 

primary amenorrhoea. Proper diagnosis is important as 

there is a high chance of gonadoblastoma, and the 

patient needs a gonadectomy. Due to advances in 

assisted reproductive techniques, pregnancy is possible 

with donor oocytes. 

 

Acknowledgments 

I would like to thank the patient and her parents for their 

cooperation. 

Author Contributions 

Conception and design- HKP. Acquisition, analysis, and 
interpretation of data- HKP. Manuscript drafting and revising it 
critically- HKP, GD, MKS. Approval of the final version of the 
manuscript- HKP, GD, MKS. Guarantor accuracy and integrity of 
the work- HKP. 

Funding 

This study did not receive any funding. 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Conflict of Interest 

The authors have no conflict of interest to declare. 

Ethical Approval    

The study being a case report does not have ethical approval from 

the institutional review board, but the patient and her parents gave 

consent for the photo and reporting. 

ORCID iD 

Hema Kumari Pradhan https://orcid.org/0000-0003-1508-2099   

 

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Pradhan HK et al. Bangabandhu Sheikh Mujib Medical University Journal 2023; http://doi.org/10.3329/bsmmuj.v16i2.67241 

Swyer syndrome 130  


