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2015 ; 16
(4
): 252-6
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The laparoscopic management of Swyer syndrome: Case series
#MMPMID26692777
Malhotra N
; Dadhwal V
; Sharma KA
; Gupta D
; Agarwal S
; Deka D
J Turk Ger Gynecol Assoc
2015[]; 16
(4
): 252-6
PMID26692777
show ga
Swyer syndrome, also known as 46 XY pure gonadal dysgenesis, is a rare endocrine
disorder. Affected individuals are phenotypically female with female genitalia,
normal Mullerian structures, absent testicular tissue, and a 46 XY chromosomal
constitution. We report a series of eight cases of Swyer syndrome, of which six
were managed by laparoscopic gonadectomy. The two other cases had to undergo an
exploratory laparotomy in view of their presentation with adnexal masses. Two of
the girls were siblings. The chief presenting complaint was primary amenorrhea.
Four girls also presented with a history of poor development of secondary sexual
characters. The average age at presentation was 16.19±2.85 years. The average
height was 158.33 ±4.63 cm, and the average weight was 49.33±8.44 kg. Breast
development was either Tanner 2 or 3 in four girls, whereas three girls had a
Tanner 1 underdeveloped breasts. Axillary and pelvic hair was sparse in all the
girls. The vagina was well canalized in all the girls. Hormonal evaluation
revealed hypergonadotropic hypogonadism with a mean follicle-stimulating hormone
(FSH) level of 95.81 mIU/L and a mean luteinizing (LH) level of 24.15 mIU/L.
Imaging analysis revealed the presence of a small uterus in all the cases, except
one. Bilateral ovaries were either not visualized or streak gonads were present.
Adnexal mass was detected in two of the six cases with raised carcinoembryonic
antigen (CA) 125 levels in one case. Genetic analysis revealed a karyotype of 46
XY in six girls, 46 XY/45 X in one, and the culture repeatedly failed in one
girl. Because of the risk of malignancy, bilateral gonadectomy was performed in
all cases. Histopathological analysis revealed that three of the six cases had
dysgerminoma. The patients have been started on hormone replacement therapy.
Laparoscopy is a minimally invasive modality for the definitive diagnosis and
treatment of cases with Swyer syndrome. An early diagnosis of Swyer syndrome is
possible during workup for primary amenorrhea before they present with adnexal
masses.