McCune-Albright-Syndrome

(hier klicken für deutsche version)

 

This web-page was created in gratitude and responsibility, to forward experiences and developed know-how to a few MAS-treating M.D.´s and a few MAS-concerned.

 

In 1980 only 160 MAS-cases occurred in the medical literature.

 

The MASyndrome appears rarely world-wide (sporadic) and I was counted as N° 6 by Prof. Dr. Brabant, Endocrinologe of the MH-Hanover, Germany , in the year 2004.

This means: 6 concerned compared to 82 million people in Germany .

 

I would like to say “thank you” to Mr. Dr. Groß, who retired around 2000 from the Annastift hospital in Hanover . Between 1972-1977, I was his faithful patient for some weeks and months and in co-operation with his M.D.´s they did a lot for me. Not a single MAS-case was known back then, no surgery was helpful to look at.   

Dr. Groß believed in me, in our success, a healthy future and more important than that:

he even told me.

Also, I would like to say “thank you” to Mrs. Prof. Dr. Hüter from Hildesheim , Germany , who mentioned the best compliment so far to me, by saying: “you are the right human being for this illness”.

 

The McCune-Albright-Syndrome appears in various evolutionary stages and shows-up differently.

Main characteristic for this “female concerned” on this web-page is the mainly strong appearance of defaults in the right-hand side of the female-body:

hip, breast, thyroid gland (cysts), facial-skin-pigments.

 

Compared:

a personally known concerned male shows strong appearance of defaults in the left-hand side of his male-body.

 

 

 

Early Symptoms:        menstruation praecox when being a baby/infant (!), followed by premature development of secondary characteristics = pubertas praecox, boys show this only in exception

 

Main symptoms:        1. strongly contrasted café-au-lait spots, occur on neck, face, back, shoulders and hip. Symptom varies to not appear at all.

 

 

                                    2. spontaneous fractures and /or deformation of the skeletal system (mainly on “proximale femur” – thigh – characterized by fibrous dysplasia.

 

                                    3. endocrine dysfunction appears to arise from autonomous hyperfunction of involved glands: thyroid, adrenal, pituitary, ovaries.

Endocrine dysfunction:

                                    Hyperthyroid, cushing syndrome, acromegaly, precocious pseudopuberty,.

 

 

Source:                       source of the illness is:

                                    The syndrome results from a postzygotic somatic (dominant) mutation in some cells, which shows-up only in a mosaic-binding with healthy cells (all the daughter cells of the embryonic cell in which the initial mutation occurred also contain the mutation:

 

Imagine a chain of e.g. 8 green(=healthy) cells and 1 red (=mutated) cell, another 8 green and another 1 red cell.

à cell-division: green cells produce other healthy green cells, and the red-one will produce another red cell.

 

The earlier the mutation occurs in embryogenesis, the more widespread the tissue of involvement. Mutations late in embryogenesis are mild cases. 

 

Definition:

It always takes 2 auto-somatic chromosomes, so every auto-somatic gene is twice available.     

There are the same chromosomes of the origin of mother and father (=homologe). Auto-somatic means that no sex-chromosome is concerned.

Dominant is the gene with the mutation, compared to the genes of regular chromosomes.

This domination is comparable to the well-know “dark hair + dark eyes” hereditary.

 

 

Hereditary:                 No.

                                    No risk for siblings, no chance to hand-over to the next generation.

Occurs sporadic à somatic mosaic is spread within the cells à  one cell mutates and also spreads.

(Fertilization: 23 chromosomes of the female ovum + 23 chromosomes of the male sperm à  cell-division: 2-4-8-16…..if 1 cell of this cell-binding mutates à another cell-division of this binding will produce more mutated cells, which will spread among regular healthy cells within the embryo-body.)

 

If a fertilized egg (female) would already carry a mutated chromosome, then all cells would carry this mutation. A fertilization would not lead to a pregnancy. This condition/state does not agree upon life (lethal=mortal).

Only within a mosaic-binding the illness is able to develop.     

 

 

Clinic symptoms:       a female concerned, born in 1962:

                                              

-          vaginal bleeding at the age of 1 year, as a baby,

from 3d year on: once annual

-          café-au-lait sport: a light pigment spot of a size of a 2-dollar-coin, shown on the top of the right-hand

-          pubertas praecox with 9 years, right-hand side:  breast-development

 

 

Treatment:                 -     1970: lymph-knot removal (right-hand loin), university-clinic Göttingen

-          1972: tissue sample of right-hand thigh-bone (suspect of bone-cancer) Annastift hospital, Hanover

-          1973: right femur (thigh-bone) fracture due to butter-soft bones, adding a long piece of 5 inches “strong bone”, cut-off the shin-bone, after surgery: walking only with a splint (no regular walking at all)

-          1974: bone-softness takes over on left-hand side thigh-bone (a cyst-filling was made), fresh bone was added from the hip to fill in and strengthen the soft thigh-bone - no walking at all: wheel chair,  Annastift Hanover

-          1975: still no walking

-          1976: adjusting the balance of the hip by cutting a wedge of 30° off the thigh-bone, tighten with a clamp and 4 screws. Walking only with 2 crutches, Annastift Hanover

-          1977: removal of clamp and screws (which took 4 hours since the new bone grew all over it)

                                   -    2000: almost a total removal of the thyroid gland (right-hand side: 4 cysts)

                                   

 

 

Hormone-treatment:  a female concerned:

                                    No treatment done when being an infant

                                    (mainly since no other case was available)

 

                                    Treatment after thyroid-gland surgery in 2000:

                                    TSH-hormone “L-thyroxin”, 50 nano grams                 

 

 

HINT:                         in general:

                                    Endocrine consultation (hormone specialist), follow yellow-pages and check within the next bigger city at university-clinics.

                                   

 

In Germany e.g.: MHHanover

 

                                      OA Dr. med. Christoph Terkamp
                                    Facharzt für Innere Medizin
                                    Endokrinologe und Diabetologe
                                    Abteilung Gastroenterologie, Hepatologie und Endokrinologie
                                    Medizinische Hochschule Hannover
                                    Carl-Neuberg-Str. 1
                                    D-30625 Hannover
                                    phone.: +49 – (0)511 - 532 - 3196

                                     terkamp.christoph@mh-hannover.de

 

 

 

                                    Consultations in terms of bones/fibrous dysplasia:

                                    Find a specialist at hospitals which is famous for bone-treatment

                                   

In Germany e.g.: Annastift Hanover

                                    Orthopädie:

                                    Prof. Dr. C.Wirth

                                    phone.: +49 (0)511 – 5354 - 340

                                    http://www.mh-hannover.de/251.html

 

 

 

 

Help-yourself:            ask and contact:  time2talk@mccune-albright-syndrom.org

 

 

                                    The MAGIC foundation in the U.S.A. is also specialized on rare syndromes as the MAS and can deliver a list of so far all concerned and their parents.

 

 

Female concerned:    alteration in the body:

 

-          1989: dripping mamma/breast (right-hand side)

-          1994: muscle-growth removal off the uterus (as big as a fist)  PLUS

                removal of a ”knot” off of the right breast (not bad)

-          1997: removal of an small-egg sized haematome off the right breast

 

 

 

Token measures:

-          2004: after a long break, showing-up again at the endocrine-center of the MHH, meeting Mr. Prof. Dr. Brabant

-          Undergoing some blood- and hormone/urine-tests

-          A bone-structure measurement was done by DEXA, result: showing a regular bone-structure around the thigh-bone and loin-vertebra area. An activated bone-metabolism was found.

 

Daily taking “vitamin D3” (since 2004)

 

 

Healthness:               

 

Hint:                           a healthy team-work between body, soul and nutrition maybe holds down the dimension of the body-alteration and keeps it on a lower level.

 

Nutrition:                    daily:

drink milk -

 

Avoid any coffee (!)and white-sugar

à Coffee and white-sugar “steals” precious calcium of the bone-structure

 

Eat daily fresh fruit: “an apple a day keeps the doctor away”

 

Avoid pork-meat,

eat less cheese (due to fat & calories and low sports activities)

 

eat daily plain joghurt (50-100 grams), with glucose only or fresh fruit

 

drink:

milk, 1 -1,5 liter of still water, butter-milk (mainly)

 

in winter-time:

red-tea or green-tea with honey to sweeten

 

 

KEEP  IN  MIND:     always find a reason to laugh about !!

 

 

Special thanks to:        good co-operation with the MH-Hanover, Div. Human Genetic: Mrs. Dr . Arslan-Kirchner, who was helpful creating the source- and hereditary-text for this web-page.