Urglogic Anomalies Associated with an Absent Uterus

KHALID M. ATAYA From the Departrnem

A.DNAN lVL MROUEH

AND

Obstetrics and Gynecology, American University Medical Center, Beirut, Lebanon

ABSTRACT

of congenital absence of the 5 with the testicular Seven of 27 excretory urograms were abnormal. No correlation between the and anomalies could be documented. AH•v
The incidence of congenital absence of the uterus is not dear. Of 172 patients with primary amenorrhea seen at our institution during a period 34 (19 per cent) had congenital absence of the uterus. The association between genital and anomalies is well established. 1- 6 However, the maldevelopment patterns cannot be correlated in the 2 systems. Griffin and

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MATERIALS AND METHODS

Our study included 37 patients with congenital absence of the uterus. The ,.,v,up,.uL.,c in all patients was primary amenorrhea. The average age was 19.6 years, with a range of 16 to 31 years. Complete medical history and physical examination were ob-

Endocrinologic and urologic findings in patients with an absent uterus and testicular feminization Pt. No.-Age (yrs.)

Vagina (crri.)

1-18

0

2-15 3-22 4-18 5-13 6-18 7-19 8-18 9-16 10-21 11-21 12-23 13-17 14-16 15-18 16-17 17-17 18-34

0 0 0 0 0 0

19-19 20-19 21-17 22--19 23-22 24-17 25-18 26-23 27-24 28-17 29-21 30-11

2 2

Follicle-Stimulating Hormone (mIU/mL)

8.0

10.8

Pos. (6 n1u.)* 1.55 9.7

6.15

14.5

12.3 13.7

6.2

Pos. (6 mu.)' 8.8

6.2 13.0

2

5.4

2

10.5 6.5 17

18 50 28

7 14.0 9.1 3.6 2.5

2.5 14.5 35 10.5 3.5 18 l4 34.5

2 5

5 5 5 5

IVP

Absent Normal

Remarks

Bony bridge between first and second ribs; absent ute!us and lt. ovary on lapaxoscopy

Normal Normal

Absent uterus on laparoscopy

Absent uterus and cystic ovaries on lapal'oscopy

3.5

l

Luteinizing Hormone (mIU/ml.)

12 8.4

14.0

5 6

LOS.

6 6

5.7

(6

Normal Normal Normal

Absent uterus on laparoscopy Absent uterus on laparoscopy Absent uterus on laparoscopy

Normal Spina bifida of lovver sacrum Normal Single kidney n,'fJOprnsia of lower half of rt. kidney Incomplete rotation of lt. kidney Pelvic kidney Normal Normal Normal Bilat. pelvic kidneys Absent rt. kidney bifida of L5 Normal NoTn1aJ

fi1l.'..r

Absent uterus on laparoscopy Absent uterus, lt. tube and ovary on laparoscopy Absent uterus on laparoscopy Absent utenrn on examination under anesthesia Absent uterus on laparoscopy Absent uterus, lt. ovary and tube on laparoscopy Absent eterus, rt. ovm·y and tube on laparoscopy; rt. unicornous uterus Absent uterus on laparoscopy Absent uterus on laparoscopy Absent utert:.s on laparoscopy Absent uterus on laparoscopy and gynecog-raphy Absent uterus on laparoscopy Absent uterus on laparoscopy and gy,~e,:ograr;hy Absent uterus) lt. ovary and tube on tariaros,:m:"' Absent uterus on laparoscopy Absent uterus on laparoscopy Absent uterus on laparoscopy and gynecography

Al::sent uterus a:r;d no broad ligaments on

31-20 32-31

6

Pos. (6 ~-:c1u.)'· 33 !U/24 hrs.t

Tl-34 T2-19 T3-20

5

5 5

5 8.6 15.4

26 39.0 72

No:nnal Nocmal Bifid lt.

T4-24 T5-27

6 6

46.3 4.9

13.4 22.7

Normal

Testiculm ferninization Absent uten.1s and tubes on laparotomy Absent uterus and tubes on laparoscopy Absent uterus and tubes on lapaxoscopy, lt. labia n1inora smaller than rt. side Absent uterus and tubes on laparoscopy Absent uterus and tubes on lapaToscopy

* Values assessed by the method of Brown, P. S.: J. Endocr., 13: 59, 1956. j" Luteonosticon supplied by Organon, Belgium.

associates reported that of 534 patients with congenital absence of the vagina 34 per cent had u:rologic anomalies. 7 We herein report on the extent of urologic anomalies in a group of women with congenital absence of the uterus and varying degrees of vaginal maldevelopment. Accepted for publication April 10, 1981.

tained for each patient. The length of the vaginal canal was measured in centimeters. Routine urinalyses and hematologic studies were done on each patient. Excretory urography (IVP) was available for 27 patients. Two patients underwent laparotomy, 25 underwent lapa:roscopy and 5 had gynecography. Gonadotropin determinations were available for 28 patients (see table).

1125

ATAYA AND MROUEH

1126 RESULTS

All patients had normal secondary sex characteristics except for the 5 patients with testicular feminization who had scanty pubic and axillary hair. Patient T4 already had undergone orchiectomy. No uterus was palpated by rectal and/or pelvic examination in any patient, and no withdrawal bleeding resulted after a challenge dose of estrogen-progestin combination. The diagnosis of an absent uterus was confirmed by laparotomy in 2 cases, laparoscopy in 25 and gynecography in 5. Of the 27 IVPs 7 (26 per cent) were abnormal. Three patients had only 1 kidney and these were situated in the pelvis in 2 cases. One patient had hypoplasia of the lower half of the right kidney and another had incomplete rotation of the left kidney along the longitudinal axis. One patient with testicular feminization had a bifid ureter with double collecting systems on one side and 2 separate ureters that united at the level of the first sacral vertebra on the other side (fig. I). Bilateral pelvic kidneys were seen in l patient (fig. 2). Laparoscopic visualization of the pelvis showed variable patterns of internal sex organ maldevelopment. Whereas a normal uterus was absent in all patients, bilateral separate muscular thickenings or a knob-like structure in the midline was seen. The ovaries were normal, except in 5 patients in whom 1 of the gonads was not visualized. Also, in 2 cases of testicular feminization the gonads were seen in close proximity to the internal inguinal ring. When present, the tubes were short with normal fimbriated extremities. Two patients had spina bifida of the lower sacral segments and the L5 vertebra, and another had a bony bridge between the first and second left ribs. One of the sisters with testicular feminization had a smaller left labium minus than the right side. The vaginal canal was absent in 7 patients, and measured 1 to 2 cm. in 14, 5 cm. in 9 and >6 cm. in the remaining 7. The gonadotropins were normal in the majority of patients, except in 4 who had testicular feminization and elevated luteinizing hormone levels, and patient T4 who had elevated follicle-stimulating hormone (46.3 mIU/ml.) after gonadectomy. DISCUSSION

The embryologic basis for malformations involving the urinary tract and the genital organs has been studied in human 7 and animal models. 8 Awareness of this association may permit accurate anatomic diagnosis. Various maldevelopment associations are reported, dependent on the time of insult to the mesonephric and miillerian components during embryogenesis.

FIG. 1. IVP of patient T3 shows bifid left collecting system on left side and double ureters on right side.

FIG. 2. IVP of patient 21 shows bilateral pelvic kidneys with short ureters.

The earlier in gestation the teratogenic insult occurs the more likely the tendency for genitourinary anomalies. 9 The frequency of the associated urinary anomalies in cases of an absent uterus is not entirely clear since most reports involved cases of partial or complete absence of the vagina. Similarly, cases of unilateral renal agenesis were found to have a 35 per cent incidence of associated partial or complete uterine duplication. 10 In our series all patients presented with primary amenorrhea and had absence of the uterus with varying lengths of vaginal development. Except for cases of testicular feminization gonadal function was intact, as assessed by the normal secondary sexual characteristics and normal gonadotropin profile, and this finding is in agreement with other reports. 11 ' 12 The presence of 2 normalappearing ovaries was confirmed in the 20 patients who underwent laparoscopy, except in 5 in whom the left gonad was not visualized. David and associates reported that of 16 cases of an absent vagina unilateral absence of 1 ovary occurred in 5. 13 The germinal epithelium and the miillerian ducts arise from adjacent areas in the urogenital ridge. 14 An early insult to these areas before 5 weeks of fetal development may explain this anomalous association. Urologic anomalies have not been reported to be a prominent feature in testicular feminization cases. However, 1 of our patients had a bifid ureter, with a double collecting system on 1 side and 2 separate ureters uniting at the level of the first sacral vertebra on the other side. Recently, Swanson and Chapler reported a horseshoe kidney in association with testicular feminization. 15 Hence, urologic evaluation is recommended in these cases as well as other conditions of anomalous genital tract. In cases of an absent uterus various degrees of vaginal maldevelopment may coexist. More than half of our cases (65.9 per

!127 cent), ~ft~"'"w'""" cases testicular H,1,.L,a1,aa lengths of ;:;;;2 cm. This is not consistent vvith the "'""'u1110Juv,, that the upper third of the vagina is derived from ,rn..1.u,e11a11 and the lower two-thirds are of urogenital sinus origin. However, the vaginal length did not bear any significant correlation with the incidence of urologic anomalies since 2 of 9 patients (22 per cent) who had vaginal lengths of ~5 cm. and 5 of 17 (29 per cent) who had vaginal lengths of ~2 cm. had urologic anomalies. REFERENCES 1. Hennessey, R. A.: Congenital solitary kidney. J. Urol., 21: 193, 1929.

2. Kelalis, P. P., Malek, R. S. and Segura, J. W.: Observations on renal ectopia and fusion in children. J. Urol., 110: 588, 1973. 3. Semmens, J. P.: Congenital anomalies of female genital tract. Functional classification based on review of 56 personal cases and 500 reported cases. Obst. Gynec., 19: 328, 1962. 4. Capraro, V. J.: Congenital anomalies. Clin. Obst. Gynec., 14: 988, 1971. 5. Chawla, S., Bery, K. and Indra, K. J.: Abnormalities of urinary tract and skeleton associated with congenital absence of vagina. Brit. Med. J,, 1: 1398, 1966. 6. Pinsky, L.: A community of human malformation syndromes involving the Miillerian ducts, distal extremities, urinary tract, and ears. Teratology, 9: 65, 1974. 7. Griffin, J.E., Edwards, C., Madden, J. D., Harrod, M. J. and Wilson, J. D.: Congenital absence of the vagina. The Mayer-RokitanskyKuster-Hauser syndrome. Ann. Intern. Med., 85: 224, 1976. 8. Marshall, F. F, and Beisel, D. S.: The association of uterine and renal anomalies. Obst. Gynec., 51: 559, 1978. 9. Magee, M. C., Lucey, D. T. and Fried, F. A.: A new embryologic classification for uro-gynecologic malformations: the syndromes

10. 11,

12.

13. 14.

15.

cf n1esoneph:cic induced rnUllerian deforrnities. J. TJ:roL 1 121: 265, 1979. Thornpson, D. P. and Lynn, H. B.: Genital anomalies associated with solitary kidney. Mayo Clin. Proc., 41: 538, 1966. Karam, K. S., Salti, I. and Hajj, S. N.: Congenital absence of the uterus. Clinicopathologic and endocrine findings. Obst. Gynec., 50: 531, 1977. Shane, J. M,, Wilson, E. A., Schiff, I. and Naftolin, F.: A preliminary report on gonadotropin responsivity in the Rokitansky-KiisterHauser syndrome (congenitally absent uterus). Amer. J. Obst, Gynec., 127: 326, 1977. David, A., Carmil, D., Bar-David, E. and Serr, D. M,: Congenital absence of the vagina. Clinical and psychologic aspects. Obst. Gynec., 46: 407, 1975. Patten, P. M.: Human Embryology. New York: McGraw-Hill Book Co., pp. 449-499, 1968. Swanson, J. A. and Chapler, F. K.: Renal anomalies in the 'XY female'. Obst. Gynec., 51: 237, 1978.

EDITORIAL COMMENT The association of genital and urinary anomalies in the female patient has been well demonstrated. The miillerian duct, the mesonephric duct and urogenital sinus all contribute to the formation of the vagina in the female subject. It is interesting that patients with testicular feminization all had relatively long vaginas. The miillerian inhibiting factor was present in those patients so that a 5 to 6 cm, vagina would have to be formed entirely from the urogenital sinus. These investigators again underscore the relationship of uterine and renal anomalies, and emphasize the need for urologic roentgenographic investigation if major vaginal or uterine anomalies are present. Fray F. Marshall Brady Urological Institute The Johns Hopkins Hospital Baltimore, Maryland