MAY QUIZ Answer:
Answer: c (Infertility treated with IVF and donor oocyte)
Swyer syndrome is XY pure gonadal dysgenesis.
The syndrome was named by Gerald Swyer, an endocrinologist, based in London.
Swyer syndrome occurs in approximately 1 in 80,000 people.
Patient with Swyer syndrome have typical female external genitalia and are typically raised as girls and have a female
gender identity but the karyotype is 46XY.
The uterus and fallopian tubes are formed, but the gonads are not functional; affected individuals have undeveloped
clumps of tissue called streak gonads.
Without testes, testosterone and AMH both are NOT produced. Without testosterone, the wolffian ducts fail to develop,
so no internal male organs are formed. Also, the lack of testosterone means that no dihydrotestosterone is formed and so the
external genitalia fail to virilize, resulting in normal female genitalia. Since AMH is absent the Müllerian ducts develop into
normal internal female organs (uterus, fallopian tubes, cervix, vagina).
Because they lack ovaries, girls with Swyer syndrome do not produce sex hormones and will not undergo puberty (unless
treated with hormone replacement therapy).
As they do not have functional ovaries, affected individuals usually require hormone replacement therapy during
adolescence to induce menstruation and development of female secondary sex characteristics such as breast enlargement
and uterine growth. Hormone replacement therapy also helps reduce the risk of osteopenia and osteoporosis.
Women with this disorder cannot have their own biological child as they do not produce ova but they can become
pregnant with IVF and DONOR OOCYTE. As uterus is present surrogacy is not required.
The residual gonadal tissue often becomes cancerous, so it is usually removed surgically early in life.
Streak gonads are usually removed within a year or so of diagnosis since the cancer (gonadoblstoma) can begin during
dr r somalatha,
boppana valluri empire, B-block, G-1, beside MVR mall, MG road, Vijayawada, AP.
406, sanskar building, SAIMS HOSPITAL CAMPUS, Near Mr 10 crossing, Indore Ujjain state highway. Indore. 453555.
Dr. Gayatri Uttur
Postal address :
Gunasheela IVF Centre, No. 1. Dewan N. Madhav Rao Road.
Basavanagudi, Bangalore 560004.