March 17, 2001
Esther Morris
M
AYER-ROKITANSKY-KUSTER-HAUSER SYNDROME….Was named in 1838 (and again in 1910) for the men who discovered physical commonalties in an unusual situation. This is a condition that involves congenital absence of the vagina, fallopian tubes, cervix and uterus. Some women have uterine remnants, or horns. External genitalia are normal. Chromosome karyotype is 46XX(normal female). The incidence rate is approximately one in 5000. Other symptoms involved can include kidney abnormalities, skeletal problems and hearing loss. The cause is somewhat unclear, but the Syndrome occurs sometime during the 4th-6th week of fetal development….
INTRODUCTION
This report should not be used for diagnostic information or medical advice.
For the last year I have been listening to women with MRKH talk about other physical problems that seem to be common in many of us. One woman would mention a particular health problem and other women would reply that they have similar physical issues. Knowing how lack of information has harmed me I felt it was important to gather more information about what women with MRKH have in common. Most often our ‘other’ physical problems are overlooked in the need to prepare us for vaginal intercourse. We all know what we don’t have. I want to look at what we do have. I am reporting the symptoms they way they were reported to me.
I used a control group for this survey to determine if the reported physical symptoms were common to all women or more prevalent to women with MRKH.
Before I figured out I had MRKH I was just a physical mess, throwing my hands in the air thinking, with my body- anything could go wrong. Discovering that I have a syndrome made my problems normal to me. I have the ‘normal’ problems of a woman with MRKH. But I have other physical problems as well. Hopefully this information will give women with MRKH, and their clinicians helpful information regarding their general health. I can’t say that these additional physical problems should be included as symptoms of MRKH, but they shouldn’t be ignored.
The basic information
To summarize this information I wanted to look at the documented symptoms associated with MRKH. All of the women reported being born without a uterus, 28 women were born without a vagina and one woman was born with a partial vagina.
Twenty-five women live in the US, one woman lives in England, one woman lives in India, one woman lives in Canada, and one woman lives in Israel.
All but eight women have had their chromosomes tested and were found to be of XX karotype.
Twenty-six of the 29 women reported the typical physical problems that have been associated with MRKH. Those common ailments are Skeletal anomalies 72%, Kidney anomalies 21%, and Hearing problems 31%. I wanted to look at the other problems that seem common to women with the syndrome, but have not yet been documented. Some of the other physical problems found with the group seem to be just as prevalent.
Skeletal anomalies = 72%
|
ID |
Skeletal Problems |
|
1 |
Cervical fusions c2-c7, very limited range of neck motion, limited dexterity of left upper and lower limbs, facial asymmetry, mirror movements, Torticollis (twisted neck). Sprengels (deformed scapula.) |
|
3 |
Right side of body is smaller than the left. One leg is longer. |
|
5 |
Jaw Cysts, crooked fingers. Basal Cell Nevus Syndromes (Gorlin's Syndrome) |
|
7 |
Low back pain, Knee problems, balance / equilibrium problems |
|
8 |
Hip joint not completely formed. Curved Spine. Dip in breastbone. |
|
9 |
Low back pain |
|
10 |
Born with crooked feet. |
|
11 |
Low back pain. Scoliosis and swayback |
|
12 |
Two additional Cervical Ribs |
|
13 |
Webbed pinkies. Facial malformations- had to have jaw reset. |
|
15 |
Chronic scoliosis / pain. |
|
16 |
Scoliosis, neck and hips mis-aligned-use lift in right shoe. |
|
18 |
Crooked pinkies, swayback, |
|
19 |
Back problems |
|
20 |
Born with a bone missing in one arm and longer in the other arm. |
|
22 |
Hip joint comes out. Knees formed differently. |
|
24 |
Scoliosis |
|
26 |
Swayback. Arthritis in joints. |
|
27 |
Bone spurs, fused cerebral vertebras, scoliosis. Feet roll out |
|
28 |
Problems with legs and hips |
|
29 |
fused lower back, |
Kidney anomalies = 21%
|
ID |
kidney |
|
5 |
Medullar sponge kidneys |
|
12 |
Missing 1 kidney |
|
14 |
Missing 1 kidney |
|
15 |
Oversized pelvic kidney |
|
18 |
Single pelvic kidney |
|
29 |
Missing 1 kidney |
Hearing loss = 31%
|
ID |
Hearing |
|
1 |
Deaf |
|
3 |
Difficulty hearing the person speaking to me if there is background noise. |
|
6 |
Hearing is distant and ears ring when lying down. |
|
7 |
Problems w/ balance and equilibrium |
|
13 |
30% hearing loss-wear hearing aid. Nerve deafness, |
|
16 |
2 hearing aids. Sensorineural hearing loss. |
|
19 |
Ruptured ear drums 2x |
|
24 |
Yes |
|
26 |
25% hearing loss in 1 ear. |
Other symptoms of interest were:
Thyroid problems = 14%
|
ID |
Thyroid |
|
4 |
Have hypo thyroid problems and have thyroid cancer |
|
15 |
Graves disease: (enlarged thyroid) |
|
16 |
Enlarged Thyroid |
|
24 |
Maybe |
Allergies/sinus problems = 52%
7 (24%) of the women reported frequent sinus infections
|
ID |
Allergies /sinus |
|
3 |
Sinus problems and allergies, |
|
5 |
Extremely allergic to pollen, molds, mites, bees, shellfish, penicillin and sulfa drugs. |
|
7 |
Many allergies, frequent sinus and tonsil infections |
|
8 |
Allergies /sinus |
|
13 |
Penicillin. Sinus problems. Deviated nasal septum |
|
16 |
Extreme food allergies, (protein) until 3yo. Now mold, Sulfa drugs. Sinuses often blocked. Ears often plugged up |
|
17, 21, 22, 24, 28 |
Yes |
|
26 |
Colds always turn into sinus infections. Allergic to Sulfa. |
|
27 |
Allergies galore |
|
29 |
Severe sinusitis |
Circulation Problems = (45%) reported cold hands and feet including numbness.
2 additional women mentioned just the numbness.|
ID |
Circulation |
|
3 |
poor circulation to my hands and feet ( in the winter my feet will frequently go numb). |
|
6 |
very cold hands and feet. Clammy Legs |
|
8 |
cold hands and feet |
|
10 |
cold hands and feet. Poor circulation in legs |
|
11 |
Extremely cold hands and feet. |
|
12 |
usually cold. Some numbness |
|
13 |
cold hands and feet. |
|
16 |
Always cold. Have Morphia-pigment/circulation disorder |
|
19 |
Cold hands and feet |
|
21 |
Numbness |
|
22 |
Cold hands and feet |
|
24 |
Always hot, but hands and feet are cold |
|
26 |
Suddenly I can't feel things or pick things up. |
|
28 |
Cold hands and feet |
Other physical problems those women mentioned:
|
ID |
Other |
|
1 |
epilepsy |
|
3 |
My right side is rather weak compared to my left: the vision in my right eye is worse, my right foot is smaller, my right knee is weaker, the muscles on my right side are much more tense in my neck, and my lower back is chronically sore on my right side. My stomach and digestive system have given me myriad problems: lactose intolerance, constipation, chronic stomach aches. |
|
5 |
Hypertension. Basal Cell Nevus Syndromes (Gorlin's Syndrome which effects facial appearance and hormone secretions. ) |
|
8 |
Varicose veins |
|
9 |
Anxiety / Nervous tendencies. Prone to addiction |
|
13 |
Yeast infections under arms. Constipation. |
|
15 |
Hypertension |
|
17 |
Depression |
|
20 |
Asthma |
|
21 |
Had a tumor removed at 5yo |
|
22 |
Depression. Inguinal hernia repair at 6 months |
|
24 |
Mania Depression |
|
25 |
Obesity-stress related |
|
26 |
Bipolar with psychotic tendencies. Temporal lobe epileptic. Heart murmur. Short urethra. Have taken Chondroitin/Glucosamine for joint pain. |
|
27 |
Fibromyalgia, missing thumb muscle, acne. Take desyrel, estradiol, claritin, flonase. Used to take Valium and Lodine. |
|
28 |
Hair loss |
|
29 |
Born w/o anal opening. No sphincter muscle |
Vaginal Treatment
I was thinking I would ignore the sexual and vaginal aspects in this survey since the other survey covers that in more detail. But I couldn’t ignore the facts and this information is important.
(34%) had surgery for vaginal agenesis
(28%) had Dilation for vaginal agenesis
(7%) used intercourse to create or lengthen their vaginas
(28%) choose no treatment
1 woman is considering surgery because of problems resulting from dilation.
1 woman had a laparoscopy before dilation.
1 woman combined intercourse with dilation.
(28%) of the group reported shrinkage or scar tissue that makes intercourse painful. One woman listed psychological problems as a result of vaginal treatment. Many women mentioned depression as another symptom (see ‘other’ category above)
(45%) reported regular physical pain in back, neck or shoulders.
(24%) reported menstrual cramps.
(14%) have been given medication to control ovulation. 3 MRKH women used birth control pills and 1 woman used anti-inflammatory drugs.
Comparison to a Control Group of women, who do not have MRKH
|
VARIABLE |
MRKH WOMEN |
CONTROL GROUP |
|
AVERAGE AGE |
29 years old |
38 years old |
|
Kidney Problems |
21% |
0% |
|
Hearing problems |
31% |
25% including 1 woman with congenital nerve deafness and 1 woman who ruptured her eardrums as an adult. |
|
Skeletal |
72% |
25% |
|
Thyroid |
14% |
0% |
|
Allergies Frequent Sinus infections |
52% 24% |
38% 25% |
|
Circulation Problems |
45% |
11% |
|
Regular pain due to skeletal problems |
45% |
22% |
|
Experience pain during intercourse |
28% |
22% they preferred to say some discomfort |
Conclusion:
When comparing the occurrence of symptoms for women with MRKH, it seems that some of these other symptoms could be included as part of the syndrome. The prevalence ranges from 72% in skeletal problems to 21% for kidney problems for symptoms that are already associated with MRKH. Although the kidney problems seem more severe than circulation or sinus problems-that is not to say that these other symptoms are irrelevant. The true conclusion is that there is a need for more research regarding the effect that MRKH has on the whole body.