The MAGIC Foundation India, affiliated to The MAGIC Foundation, USA, was set up to spread the awareness of various children’s growth disorders, across India. This website is intended to provide general educational information and to help users more easily access information about children’s growth disorders.
Fertility and Reproduction in Turner Syndrome (TS)
Article by: Dr. Reeta Billiangady.
TS is a chromosomal disorder that affects development in females. These girls are short statured, a feature which becomes evident by about age 5 and have several other phenotypic features which help diagnosis. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common. The ovaries develop normally at first, but egg cells (oocytes) usually die prematurely and most ovarian tissue degenerates before birth. Many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive (infertile). A small percentage of females with Turner syndrome retain normal ovarian function through young adulthood.
It is seen in 1/200 conceptions. But, the incidence drops to 1/2500 live births as majority of Turner pregnancies end in early miscarriages.
Hormone replacement therapy (HRT)with estrogens and progesterone is necessary in them to initiate and maintain maturation and function of secondary sexual characteristics at Puberty and thereafter. It normalizes the size and overall health of the uterus and promotes achievement of full height.
Fertility counselling needs to begin at the time of diagnosis, for the family to accept facts and to make sensible decisions. Ethical considerations about fertility preservation or fertility treatment need to be discussed. Options such as adoption or using a gestational carrier (surrogate) should be mentioned.
Since these girls tend to have either fewer eggs or no eggs in their ovaries, an aggressive approach to achieve pregnancy is recommended in the form of IVF with own eggs or donor’s eggs. At the same time, it is necessary to know that TS a relative contra-indication to pregnancy since they have a high prevalence of cardiac anomalies which put them at a higher risk for certain complications during pregnancy. They are also prone for thrombotic disorders ie spontaneous blood clotting, which gets exaggerated during pregnancy. It is necessary to subject them for a comprehensive cardiological and maternal-fetal medicine evaluation before considering pregnancy either with own eggs or by oocyte donation in an IVF program.
Preserving the eggs of young TS girls for future use is an option. Donor egg IVF carries high chances of pregnancy compared with their own eggs for several reasons. Gestational surrogacy makes it a safe option to have a baby.
Dr Reeta Biliangady is a fertility specialist. She has done her fellowship in Reproductive Medicine and is the Clinical Director of Cloudnine Fertility, Bangalore. She is also the Program Coordinator for Fellowship in Reproductive Medicine. Her papers have been published in peer reviewed journals. Fertility is an area which is of special interest to women with Turner Syndrome. With her generous personality, her calming demeanour and her passion to help, Dr Reeta Billiangady is a wonderful presence today, and will speak about fertility aspects in TS.
Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is an autosomal recessive genetic disorder, which means that it affects males and females in equal numbers, and that it requires both parents to pass on a gene in order for it to manifest as a disease. For a child to be born with any form of CAH, both parents must carry a gene for the disorder.
Growth Hormone Deficiency
Growth hormone (GH) is a protein made by the pituitary gland and released into the blood in brief pulses. The major way that GH promotes growth is by increasing levels of the hormone, insulin-like growth factor-1 (IGF-1), and its carrier protein, IGF binding protein-3 (IGFBP-3), in the blood.
Optic Nerve Hypoplasia
A child with the Syndrome of Optic Nerve Hypoplasia, also known as Septo Optic Dysplasia or DeMorsiers Syndrome, has under-developed optic nerves. The optic nerves carry messages from the eye to the brain. ONH is the single leading cause of blindness in infants and toddlers.
Russell Silver Syndrome
Russell-Silver syndrome (or Silver-Russell syndrome) is a rare genetic disorder characterized by delayed growth in-utero (IUGR) that spares head growth (meaning the newborn has a head size that is large for his body) and ongoing postnatal growth failure.
Small for Gestational Age
SGA (small for gestational age) generally describes any infant whose birth weight and/or birth length was less than the 3rd percentile, adjusted for prematurity (gestational age). Between 3% and 10% of live births each year are diagnosed as SGA.
Turner’s Syndrome occurs in 1 in 2,500 live female births. Approximately 98% of pregnancies with Turner’s Syndrome abort spontaneously and approximately 10% of fetuses from pregnancies that have spontaneously aborted have Turner’s Syndrome.
Connect with us!
We have created a Facebook page called Omkar’s Journey with Congenital Adrenal Hyperplasia to chronicle all possible events and scenarios in the life of a child with CAH, with a view to let new parents know what to expect.
➤ Step 1: Search for the group page on Facebook.
➤ Step 2: Please request to join.
➤ Step 3: Send a message to the Admin or an email to
[email protected] and let us know why you are interested in joining this group.