DBA UK 14th Anniversary Conference17th-19th May 2013

Hormonal and fertility issues caused by transfusion

Dr Scott AkkerConsultant EndocrinologistSt Bartholomew’s Hospital

London

The Endocrine/Transfusion interface

• Growth and sexual development

• Diabetes

• Thyroid and Parathyroid

• Bone

• Gonad (Testis and Ovary)

• Adrenal

The pituitary gland – the control centre

The pituitary controls the function of the ovary and testis

GnRH – Gonadtrophin Releasing Hormone

LH – Luteinising Hormone

FSH – Follicle Stimulating Hormone

LH and FSH in men

1)LH drives Leydig cells to make testosterone

2)FSH drives Sertoli cells to make sperm

Testis therefore has 2 separate but linked roles:- make hormone (testosterone)- make spermatozoa

LH and FSH in women

Ovary therefore has 2 separate but linked roles:- make hormone (oestrogen & progesterone)- make oocytes

LH drives hormone production and stimulates ovulation

FSH drives follicle development

Hormones allow the womb lining to develop

Iron overload Damage

Testosterone OestrogenProgesterone

Damage can occur at level of:

1)Pituitary

2)Testes & Ovary

Pituitary/Testis damage in men

Testosterone OestrogenProgesterone

Symptoms best treated by replacing the missing testosterone:

1)Daily testosterone gel (Testogel, Testim)

2)Testosterone injections (Nebido every 3 months)

BUT there will be no sperm production

Pituitary/Ovary damage in women

Testosterone OestrogenProgesterone

Symptoms best treated by replacing the missing oestrogen & progesterone:

1)A combined oral contraceptive preparation

2)A preparation usually used for post-menopause

BUT there will be no egg production

Fertility/Men

• For men:– If requiring testosterone, unlikely to be

producing sperm– If there is damage to the testes, may be

unable to produce sperm– If there is pituitary damage, the testes may be

able to produce sperm by replacing the LH and FSH

LH & FSH replacement

• Intensive

• Expensive

• Takes at least 3 months to produce a sperm and on average 6 months for a couple to get pregnant so at least a year of treatment

• May require additional help (IVF, ICSI, etc.)

Fertility/Women

• Difficult decision and discussion– Overall health important– Heart will have to do 40% more work– Diabetes adds to risks

• If damage to ovaries, may not be able to ovulate

• Clomiphene can help ovulate with careful monitoring

• May need additional help (IUI, IVF, ICSI)

Other fertility treatments/ IUI

IUI – Intra-uterine insemination

Sperm are placed directly into the uterus (womb) with a small tube/catheter

Other fertility treatments/ IVF

IVF – In- Vitro Fertilisation

Eggs are collected after Ovary stimulation

The egg and sperm are mixed in a test tube

An embryo is then placed directly into the womb

Other fertility treatments / ICSI

ICSI – Intracytoplasmic Sperm Injection

Eggs are collected after Ovary stimulation

A single sperm is chosen and directly injected into a single egg

The embryo is then placed directly into the womb

Fertility summary

• Fertility is a complex area and treatment will be limited by the amount and type of damage and cost

• Keeping low iron levels throughout life gives the best chance of not having problems with fertility

• It is possible that, like the heart, some of the damage to the endocrine organs is reversible with good chelation.

Bone Growth & Strength

• Multiple factors (Anaemia, Iron, Chelators, Growth Hormone deficiency/resistance)

• Also reduced by steroids• Widespread Vitamin D deficiency

– From sunlight! Absorbs calcium from gut

• Vitamin D easily replaced – Adult dose 25mcg/1000 units once daily

• (less in pregnancy and children)

Underactive Thyroid

Thyroid gland makes thyroxine

Easily replaced with tablet or liquid thyroxine

Correct dose found by measuring free thyroxine level in the blood (fT4).

BUT TSH must be ignored (if iron)

Adrenal Failure/Steroids

• Very rarely due to iron overload

• If on steroid treatment or replacement– Steroid card & Medic Alert– Emergency access to steroids if vomiting– Understand when to increase dose (eg)