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7: Reproductive Endocrinology and Infertility
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CONGENITAL ANOMALIES
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What is suggested by clitoral enlargement Exposure to high levels of androgens Proper evaluation to exclude any intersex conditions is warranted A persistent urogenital membrane It is rare to make this diagnosis before puberty Symptoms include primary amenorrhea, pelvic pain, and difficulty with urination/ defecation Endometriosis and vaginal adenosis
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An absence of fusion of the m llerian ducts and/or urogenital sinuses leading to an obstructive lesion in the vagina This leads to obstructive symptoms similar to those of an imperforate hymen Usually associated with MayerRokitansky-Kuster-Hauser syndrome It involves normalappearing external genitalia with agenesis of the vagina superior to the hymen It is usually associated with uterine and cervical agenesis Also associated with testicular feminization, yet these patients have testes instead of ovaries and need to have them removed Primary amenorrhea and pelvic pain Creation of a vagina by use of either serial vaginal dilation or surgical reconstruction with a vaginoplasty procedure Arcuate uterus (15%): small septum with minimal cavity indentation Incomplete septum (13%): partial fusion resulting in a septum that does not completely divide the horns
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Section II: Topics in Gynecology
Complete uterine septum (9%): partial fusion that completely divides the uterine horns Bicornate uterus (37%): partial fusion leading to a midline septum (can be partial or complete) Uterine didelphys (11%): failure of fusion resulting in two separate uterine bodies Unicornuate uterus (4%): agenesis of one M llerian duct, with an absence of the corresponding fallopian tube and round ligament What are the symptoms of these uterine anomalies What does the palpation of an inguinal mass in an adolescent patient suggest How should an aberrant gonad be managed Usually asymptomatic; can occasionally cause retention of menstrual flow or infertility Possible aberrant gonad (often with testicular elements) A karyotype should be done and a biopsy of the gonad should be done If it is an ovary, it should be returned to the peritoneal cavity If it is a testis, it should be removed
ACCELERATED SEXUAL MATURATION
What is premature thelarche and how is it managed Isolated development of breasts before 8 years of age No intervention is required if other signs of precocious puberty do not develop Isolated appearance of public or axillary hair before 6 7 years of age It generally represents premature secretion of androgens from the adrenal gland Evaluation of the adrenal and gonadal function should be done to exclude precocious puberty Isolated cyclic vaginal bleeding without any other signs of sexual development It is usually related to increased end-organ sensitivity to estrogen and it does not require any intervention
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7: Reproductive Endocrinology and Infertility
What is sexual precocity
Onset of sexual maturation before 25 times the standard deviation of the normal age for that population GnRH dependent and GnRH independent Also called central precocious puberty (CPP); premature activation of the hypothalamic-pituitary axis with premature gonadotropin secretion Sex steroids are present independent of the release of pituitary gonadotropins This is a pseudoprecocious puberty Congenital adrenal hyperplasia; tumors of the adrenal gland; tumors of the gonads; hCG-secreting tumors; mcCune-Albright syndrome; Exogenous steroids 1 History: age of onset, progression, family history 2 Physical examination (PE): growth velocity changes, acne, breast development, genital changes 3 Laboratory: luteinizing hormone (LH), follicle-stimulating hormone (FSH), estradiol, GnRHstimulation test 4 Imaging: skeletal survey and bone scan to determine bone age, pelvic ultrasound, abdominal CT (of adrenals), brain MRI Normal pubertal range
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GnRH analogues, which induce down-regulation of the receptor function, creating an inhibition of the hypothalamic-pituitary-ovarian axis A genetic disorder with a classic triad of precocious puberty, polyostotic fibrous dysplasia, and caf -au-lait skin lesions
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