Reproductive Endocrinology Flashcards
CAH (Epi, Path)
Epi: AR, 90% 2/2 21-hydroxylace (CYP 21) Deficiency
Classical: Failure of cortisol production > elevated ACTH > virilization
- Salt-wasting (3/4)
- Simple virilizing
Nonclassical:
CAH (Dx, Tx)
Dx: CVS, analyze CYP21 and 11b-hydroxylase genes
Tx: Dexamethasone)
- Prenatal treatment (masculinization of genitalia begins at 6-7 weeks, ~8-9 wks after LMP)
- Cx: Rare FTT, Psychosocial delay; maternal wt gain, edema, HTN< abnl GTT< cushingoid.
Nonclassical: No treatment required, benefit from genetic counseling
Labial Adhesions
- Aka labial agglutination/labial fusion/vulvar synechia
- upt o 1.8% of girls
Asx vs infl/dysuria/UTI/obstxn
Dx: Screen for UTI
- 80% resolve spontaneously in 1y, percistence p puberty rare
- screen for abuse
Tx:
- Estrogen cream x weeks
Emergency Contraception
1 Levonorgestrel (1.1% pregnancy)
- 1 dose regimen 1.5mg x1
- 2 dose regimen, 0.75mg Q12h x2
Combo OCs (3.2%) - more nausea)
- 100mcg EE / 0.5 levo Q12h x2 + antiemetic 1h after first dose
Paragard
Up to 120h after
Donor oocyte use
Elevated Day 3 FSH >10-15) diminished pregnancy potential
11 Beta-hydroxylase deficiency
<5% of CAH; 1:100,000 live births
Cannot convert corticosterone to aldosterone; cannot convert 11-deoxycortisol to cortisol (XCS CRH and adrenal hyperplasia_
Dx:
- Elevated 11-deoxsycorticosterone, 11-deoxycortisol, androgens, total urinary 17-ketosteroids
HTN, Na/water retention, volume expansion, hypokalemia
Other Enzymatic Deficiencies
- 3B hydroxysteroid dehyrdogenase deficiency
- adrenal insufficiency, mild virilization; late onset hirsutism and menstrual irregularities - 17alfpha hydroxylase deficiency
- cortisol and sex steroid deficiency
- HTN, sexual infantilism, pseudohermaphroditims
Steroid Synthesis Pathway
Antiresorptives in Reproductive Age Women
ESTROGENS
SERMS
Vit D
Calcium
Calcitonin
Bisphosphonates (not recommended, can affect fetus)
Swyer Syndrome
46, XY gonadal dysgenesis
- Female external genitalia, uterus, fallopian tubes (vs complete androgen insensitivity
Gonadal Dysgenesis
Persons who have streak gonads rather than ovaries
(Monosomy X vs Swyer syndrome 46, XY)
5-alpha reductase deficiency
AR, 46, XY
Impaired conversion of T > DHT
Bilateral testes with impaired virilization during embryogenesis (DHT eneded for testicular descent)
Testes present > MIF produced, mullerian structures not maintained
Px: female child masculinizes during puberty, poor breast development
40fold increased testicular cancer risk
How Frequently do Pregnant women with Bicornuate Uterus have a term live delivery
60%
Delayed Puberty Definitions
Workup when
- No secondary sex characteristics by age 13
- Absence of menarche by 15
- 5 years between onset of thelarche and menarch
Delayed Puberty Etiologies
Hypergonadotropic Hypogonadism (Ovarian Failure)
- Ovarian Failure
- Turner’s, 46,XX, 46XY (Swyer’s syndrome vs androgen insensitivity)
- Other Rare
- 17a-hydroxylase deficiency
- Resistant Ovary Syndrome
Hypogonadotropic Hypogonadism (CNS, pituitary)
- Reversible
- Physiologic
- Wt loss/anorexia
- Prolactinoma
- Primary hypothyroidism
- CAH
- Cushings
- Irreversible
- GnRH Deficiency
- Kallmans
- Prader Willi
- GP54R (Leptin-R deficiency)
- Radz
- infiltrative dz
- Hypopituitarism
- Craniopharyngioma
- Congenital CNS defect
- Pituitary Adenoma
- Malignant pituitary tumor
- GnRH Deficiency
Amenorrhea and Blind Pouch
- MRKH
- Nl pubic hair/breasts, no cyclic pain
- 20-25% w renal anomalies, 15%s skeletal
- AIS
- Scant pubic hair, nl breast, no pain
- Androgen receptor defect
- Unopposed E > Breasts
- Have tests
- AMH present so > no uterus
- Transverse Septum
- Nl pubic hair/breasts. Cyclic Pain
Primary Amenorrhea and Elevated FSH
- Gonadal Failure
- XO or mosaic
- Galactosemia (FTT, abnl FSH/LH, failure of germ cellmigration to ovary)
- 17a-hydroxylase deficiency (HTN, hypokalemia, high 17-OHP)
Turner’s Syndrome (Evaluation and Tx)`
- IVP/renal US, ECHO, hearing exam, TSH/free T4, fasting glucose
- Tx: Growth hormone and estrogen treatment later
Steroid Synthesis
- Starts with Choleesterol
- Rate limiting rxn: Side chaing cleavage to 21C pregnenolon
- 21 Carbons: Progestins, glucocorticoids, mineralocorticoids
- 19 carbons: Androgen
- 18 C: Estrogens
Adrenal Steroid Disorders
- CAH
- 21 hydroxylase deficiency (90% cases)
- 11b hydroxylase deficiency (5% cases)
- 3beta hehydrogenase deficiency (rare)
- Pubertal Disorders vs Ambiguous Genitalia
- 17 alpha hydroxylase deficiency
- 17 beta dehydrogenase deficiency
17alpha hydroxylase deficiency
- Presentation
- Male Ambiguous Genitalia
- Female pubertal delay
- HTN 2/2 mineralocorticoid effect of 11-DOC
- NA retension, water expansion, hypokalemia
- low urinary 17-ketosteroids
