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Below are some of the words you may hear during a consultation with a specialist.   It is sensible to make a list of questions you would like to ask the doctor and take it with you to your appointment.  Do not be afraid to ask questions, the doctor will not know what is concerning you unless you tell him/her.

Amniocentesis Taking a sample of the fluid that surrounds a baby in the womb so that the genetic material of the baby can be analysed.

Aorta The main blood vessel into which the heart pumps blood.

Aneurysm A balloon-like swelling in a blood vessel.

Chromosome Part of the genetic material present in all human cells and is inherited from parents.

Chorionic villius sampling Taking a sample of the membrane that surrounds a baby in the womb so that the genetic material of the baby can be analysed.

Cubitus valgus Describing elbows which cannot be fully straightened.

Endocrinologist A doctor who specialises in glands/hormones.

ENT specialist Doctor who specialises in conditions that affect the ear, nose and throat.

Epicanthus The vertical fold of skin from the upper eyelids that cover the inner corner of the eye.

Growth hormone[GH] The hormone that stimulates growth.

Hormone Chemicals produced by one part of the body that influences what happens in other parts of the body.

Hypertension Blood pressure that is higher than normal.

Insulin Hormone that causes cells in the muscles and liver to take sugar out of the blood.

Menopause The time of life when a woman’s ovaries stop producing eggs and she stops having periods [monthly bleeds]

Menstruation Monthly bleeding [periods] when parts of the lining of the womb are discharged if a woman is not pregnant.

Mixed gonadal dysgenesis Condition in which the female sex organs[ovaries] do not develop properly and may contain some tissue normally found in male sex organs[testicles]

Mosaicism When cells do not all contain identical chromosomes – two different chromosome patterns, a person has one type in some cells and the other type in all their other cells.

Myopia Short sightedness.

Oestrogen The hormone involved in female sexual development and functioning of the female reproductive system.

Ovaries Part of the female reproductive system where eggs develop.

Orthodontist Doctor who specialises in correcting the position of teeth.

Doctor who specialises in treating children.

Palate Roof of the mouth.

Pterygium colli [web neck] the extra folds of skin which stretch from the neck to the shoulders.

Progesterone A hormone that acts on the uterus in partnership with oestrogen.

Ptosis Droopy eyelid[s]

Puberty The time when the body begins to develop sexually.

Syndrome Used to describe a disorder when a group of symptoms occur together.

Sex chromosome Part of the genetic material that determines whether a person is male or female. X or Y chromosomes, males have one X and one Y, females have two X chromosomes [although this differs in TS]

Thyroid hormone Hormone that helps to control metabolism - the chemical reactions that occur in the body.


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