Hysterectomy at Teenage in Turner's Syndrome

Author Information

Kokate P*. Humne A**, Fusey S***.
(* Assistant Professor, ** Associate professor, *** Professor and Head of Department. Department of Obstetrics & Gynaecology, Government Medical College, Nagpur, India.)

Abstract

A 12 year old girl presented with pain in abdomen since 15 days. She had not attained menarche. On examination she had short stature (height 130 cm), webbed neck and bilateral thumb anomalies. She had congenital heart disease and absent left kidney. On examination under anaesthesia it was found that she had vaginal dimple and urethra opening in it. Magnetic Resonance Imaging (MRI) of abdomen and pelvis showed bulky uterus and cervix, hyper intense collection of 25 ml in cervix and another in vagina due to agenesis of proximal 1/3 of vagina. On laparotomy unicornuate uterus and hematocolpos were removed and collection in the upper vagina drained out. Chromosomal studies disclosed mosaic Turner syndrome.

Introduction

In Turner syndrome (TS) female is missing partly or completely an X chromosome. Signs and symptoms vary among those affected. There is a short and webbed neck, low hairline at the back of the neck, low-set ears and short stature. They are without menstrual periods, have ill development of breasts, and are unable to conceive. Heart defects, diabetes mellitus, and low thyroid hormone occur more frequently. Most people with TS have normal intelligence. Vision and hearing problems occur more often.

Turner syndrome occurs in between 1 in 2000 to 1 in 5000 females at birth. All regions of the world and cultures are affected about equally. Henry Turner first described the condition in 1938. In 1964 it was determined to be due to a chromosomal abnormality. We report here a case of Mosaic Turner’s syndrome with uterine and vaginal anomalies along with other features of Turners’ syndrome.

Case Report

A 12 year old female patient presented to with a complaint of pain in abdomen since 15 days. She had not attained menarche. She was diagnosed to have ventricular septal defect. She had absent left kidney. She had absent left thumb and hypo plastic right thumb. She had short stature and webbed neck.

On examination she had vaginal dimple of 0.5 cm. Urethral opening was seen at the anterior edge of the dimple. On per rectal examination a mass of small orange size was felt anteriorly high up in the pelvis, the lower border of which was above pubic symphysis.

On Computed Tomography and MRI, the uterus and cervix appeared bulky, occupying the right side of pelvis. Hyper intense collection was noted in endometrial cavity and upper part of vagina of approximate volume 75-77 ml. The lower third of the vagina was not visualized. She had hematosalpinx. Left ovary was ectopic in location in left iliac fossa. Her cardiology work up and fitness for surgery was done. Pediatric surgery consultation was done. A diagnosis of turners syndrome was done by karyotyping.

As the space was very less to create vagina and urethra was opening directly into vagina and bulge of hematsalphinx and hematometra was above pubic symphysis, it was decided to proceed with laparotomy and if needed hysterectomy. On laparotomy, she had unicorneuate uterus with hematometra, with the lower pole of the bulge above the pubic symphysis. Unicorneuate uterus with hematosalphinx was removed. 20 ml of collected blood was removed.

Figure 1. Appearance of external genitalia.

Figure 2. Laparotomy findings.

Discussion

Turners syndrome (45,X) is the most common chromosomal abnormality causing gonadal failure and primary amenorrhea.^[1,2] In addition to gonadal failure. There is associated stigmata that include short stature, webbed neck, shield chest, cubitus valgus that are easily seen on physical examination.^[2,3] Once diagnosis of Turners syndrome is confirmed, studies should be performed to assure that cardiac, renal and autoimmune (thyroiditis) abnormalities are diagnosed and treated. Of the genes on the X chromosome, 20% escape X inactivation, and it is believed that loss of second copy of these genes in a 45,X patient cause the stigmata associated with Turners syndrome.^[4] Deletion of X chromosome is associated with premature ovarian failure despite normal development of ovaries because of accelerated atresia of the follicles.^[5] In our case due to functioning ovary and uterus she had hematometra, hematosalpinx and collection in upper part of vagina. After thorough work up and consultation with pediatric surgeon decision of hysterectomy was taken.

References

1. Rosen GF, Kaplan B, Lobo RA. Menstrual function and hirsutism in patient with gonadal dysgenesis. Obstet Gynecol 1988;17:677-680.
2. Turner HH. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology 1938;23:566-574.
3. Simpson JL. Localising ovarian determinants through phenotypic–karyotypic deductions: progress and pitfalls. In: Rosenfield R, Grumbach M, eds, Turners’ syndrome. New York, NY: Marcel Dekker.1990:65-77.
4. Leppig KA, Disteche CM. Ring X and other structural X chromosomal abnormalities: X inactivation and phenotype. Semin Reprod Med 2001;19:147-157.
5. Singh RP, Carr DH. The anatomy and histology of XO human embryos and foetuses. Anat Rec1966;155:369-383.

Citation

Kokate P. Humne A, Fusey S. Hysterectomy at Teenage in Turner's Syndrome. JPGO 2015. Vol 2 No. 9.Available from: http://www.jpgo.org/2015/09/hysterectomy-at-teenage-in-turners.html