• a. Noonan
• b. Turner
• c. Kartagener
• d. Marfan

Answer:

Primary ciliary dyskinesia (PCD), also known as immotile ciliary syndrome or Kartagener syndrome (KS), is a rare autosomal recessive genetic disorder which causes a defect in the action of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. A poor sense of smell accompanies high mucus production in the sinuses. Infertility is common, due to defective ciliary action in the fallopian tube in affected females or diminished sperm motility in males.

FIRST PRIZE
Dr Nandini Ram Babu
Postal Address Hyde Park Premium CHS. E 1 Flat No 401 Ghodbunder Road. Thane West Maharashtra India.
MOBILE :9892911137

SECOND PRIZE
Dr. Anita Singh.
Postal address 1/651,ratan khand,sharda nagar,lucknow.
MOBILE :7988737523

3rd prize
Dr. Prachi P Risbud
Postal address :
B11, Aniket CHS. LTD, Prarthana Samaj Road, Vileparle ( east) Mumbai 400057
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• a. Clomiphene citrate
• b. Letrozole
• c. Continuous infusion of GnRH
• d. Human menopausal or recombinant gonadotropin, followed by hCG

Answer: d (Human menopausal or recombinant gonadotropin, followed by hCG)
Explanation:

This patient will not be able to produce endogenous gonadotropin, since her pituitary has been ablated. The patient will, therefore, need to be given exogenous gonadotropin in the form of human menopausal gonadotropin (hMG), which contains an extract of urine from postmenopausal women with FSH and LH in various ratio for follicular growth. Recombinant FSH is now also available. Timed administration of hCG, which takes the place of an endogenous LH surge, will be needed to complete oocyte maturation and induce ovulation.
Clomiphene citrate and letrozole block the normal negative feedback of the endogenous estrogens and stimulates release of endogenous GnRH and FSH, but this will not be helpful as the patient’s pituitary has been ablated. Similarly, endogenous or exogenous GnRH cannot stimulate the release of FSH or LH in this woman because the pituitary gland is nonfunctional.
Reference:
1. Speroff, 7th Ed., Pgs. 1175–80.

FIRST PRIZE
Dr Nandini Ram Babu
Postal Address Hyde Park Premium CHS. E 1 Flat No 401 Ghodbunder Road. Thane West Maharashtra India.
MOBILE :9892911137

SECOND PRIZE
Dr. Anita Singh.
Postal address 1/651,ratan khand,sharda nagar,lucknow.
MOBILE :7988737523

3rd prize
Dr.Shivani Barala
Postal address :
Address- 34,Bhomiya Nagar , Kalwar Road, Jhotwara Jaipur 302012 Rajasthan
MOBILE :9602481460.

• a. 46XX
• b. Infertility treated with IVF and surrogacy
• c. Infertility treated with IVF and donor oocyte
• d. Gonadectomy not indicated

Answer: c (Infertility treated with IVF and donor oocyte)
Explanation:

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 infancy.

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dr r somalatha,
boppana valluri empire, B-block, G-1, beside MVR mall, MG road, Vijayawada, AP.
MOBILE :9440034094

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Repalle Deepthi
406, sanskar building, SAIMS HOSPITAL CAMPUS, Near Mr 10 crossing, Indore Ujjain state highway. Indore. 453555. Madhya Pradesh.
MOBILE :9179386427

3rd prize
Dr. Gayatri Uttur
Postal address :
Gunasheela IVF Centre, No. 1. Dewan N. Madhav Rao Road. Basavanagudi, Bangalore 560004.
MOBILE :8861930019.