A 20 yr woman with secondary amenorrhea, hirsutism and raised serum testeserone level. Which one of the following is NOT a possible cause?a) Self administration of testesteroneb) Anorexia nerovsac) Polycystic ovary syndromed) Testicular feminisation syndromeCorrect Answer: b and d. Testicular feminization syndrome now more appropriately called the complete androgen insensitivity syndrome (CAIS) in which there is partial or complete inability of the cell to respond to androgens. The unresponsiveness of the cell to the presence of androgenic hormones can impair or prevent the masculinization of male genitalia in the developing fetus, as well as the development of male secondary sexual characteristics at puberty, but does not significantly impair female genital or sexual development. So HIRSUTISM can not present in CAIS.
Five sisters presented in gynecology clinic. Their ages were 23, 21, 20, 19 and 17 yeas respectively. Number 2 had normal menses and all secondary sexual characteristics well developed. All other four had primary amenorrhoea, Tanner I breasts and pubic hairs were present. Vagina was present but it was narrow. Ultrasound revealed streak gonads and small uterus in all four. Incidently their aunt (Fathers sister) was also suffering from same problem. What is the most likely diagnosis?a) Congenital adrenal hyperplasiab) Complete Androgen insensitivity syndromec) Kallmann syndromed) Mayer-Rockitansky-Kuster-Hauser syndromee) Turner syndromef) Pure gonadal dysgenesisCorrect Answer: f) 46 XY Pure gonadal dysgenesis. Swyer syndrome. Monica F's syndrome. XY gonadal dysgenesis. Mutation of SRY. As adrenal glands make limited amt of androgens, they develop sparce pubic hairs. estrogen and prog therapy. Streak gonads should be removed as can develop gonadoblastoma. Complete androgen insensitivity syndrome (CAIS) does not significantly impair female genital or sexual development. Absence of breasts, presence of uterus and pubic hair exclude the possibility of cais. In CAIS mullerian syst regresses due to presence of AMH. Testosterone gets aromatised (in CAIS) into estrogen, which effectively feminises the body and account for the normal female phenotype. AR gene sequencing (AR - androgen receptor) reveals mutation confirms CAIS.In most cases, Turner syndrome is a sporadic event, and for the parents of an individual with Turner syndrome the risk of recurrence is not increased for subsequent pregnancies. Whereas in this case 4 sisters and their aunt is affected by this, ruling out the option of Turner Syndrome.Bilateral streak gonads may be found in patients with 46 XY Pure gonadal dysgenesis without the somatic abnormalities described in Turner's syndrome.
A 28 years old patient complains of the amenorrhea for 2 years after D & C for postpartum bleeding. She stopped lactating 1 year back. The most likely diagnosis
Correct Answer: e) Asherman's syndrome. It has a reported incidence of 25% of D&Cs performed 1–4 weeks post-partum, up to 30.9% of D&Cs performed for missed miscarriages and 6.4% of D&Cs performed for incomplete miscarriages. In another study, 40% of patients who underwent repeated D&C for retained products of conception after missed miscarriage or retained placenta developed AS.
16-year-old girl presents with secondary amenorrhoea. She is healthy, with no past medical history. Her BMI is 17. What is the most appropriate initial investigation?a) Bone mineral density scanb) Dehydroepiandrosterone sulphate (DHEAS) measurementc) Follicle-stimulating hormone measurementd) Karyotypee) Thyroid function testCorrect Answer: c) Follicle-stimulating hormone measurement. The likely diagnosis is amenorrhoea caused by weight loss, so follicle-stimulating hormone measurements would be appropriate. Since she is clinically euthyroid, thyroid function tests would be of limited value.
A 26 years old lady presented with secondary amenorrhoea and FSH and LH are found to be high, your diagnosis will be?
Correct Answer: c) Premature ovarian failure. It has abnormally low levels of estrogen and high levels of FSH, which demonstrate that the ovaries are no longer responding to circulating FSH by producing estrogen and developing fertile eggs.
Pituitary insufficiency & amenorrhoea is best treated with
Correct Answer: b) FSH with GnRH. Hypogonadotropic hypogonadism (HH), is characterized by hypogonadism due to an impaired secretion of gonadotropins, including FSH and LH, by the pituitary gland, and in turn resultant lack of sex steroid production. Treatment of HH consist of administration of either a GnRH agonist or a gonadotropin formulation.Prev Next
"Authored By Dr.Niraj Mahajan"
MD- Gynecologist, Laparoscopic Surgeon, Uro-gynecologist , Infertility specialist & Cosmetic Gynecologist.Read more [+]