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Amenorrhea and Infertility
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Amenorrhea and Infertility
PARTE 1 DE LA GUÍA
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1
Question
What happens if pregnancy does NOT occur in the menstrual cycle?
Answer
Progesterone and estrogen secretion ceases, the corpus luteum regresses, and the endometrium sheds.
2
Question
What are some physiological etiologies of amenorrhea?
Answer
Pregnancy, lactation, menopause, constitutional delay of development. In pregnancy, high estrogen and progesterone suppress hypothalamic GnRH secretion.
3
Question
List some congenital anatomical abnormalities that can cause amenorrhea.
Answer
Mullerian agenesis, transverse vaginal septum, imperforate hymen, complete androgen resistance, agenesis of the lower vagina.
4
Question
List some acquired anatomical abnormalities that can cause amenorrhea.
Answer
Uterine adhesions (Asherman's syndrome), cervical stenosis, patients with XY chromosomes and defects in receptors or enzymes (17α-hydroxylase deficiency, androgen insensitivity syndrome, 5α-reductase deficiency).
5
Question
What are the three types of hormonal etiologies of amenorrhea?
Answer
Hypergonadotropic hypogonadism (primary ovarian insufficiency), eugonadotropic amenorrhea, hypothalamic disorders (hypothalamic amenorrhea).
6
Question
What are the types of pituitary disorders that can cause amenorrhea?
Answer
Pseudociesis, genetic (pituitary hypoplasia), acquired (adenoma/prolactinoma, destructive processes, chronic disease).
7
Question
How are LH/FSH and estrogen levels affected in hypergonadotropic hypogonadism?
Answer
LH/FSH: High; Estrogen: Low; Primary Defect: Ovary
8
Question
How are LH/FSH and estrogen levels affected in hypogonadotropic hypogonadism?
Answer
LH/FSH: Low; Estrogen: Low; Primary Defect: Hypothalamus/Pituitary
9
Question
How are LH/FSH and estrogen levels affected in eugonadotropic amenorrhea?
Answer
LH/FSH: Normal; Estrogen: Normal; Primary Defect: Various
10
Question
What are some causes of hypothalamic dysfunction (hypogonadotropic hypogonadism)?
Answer
Dysfunctional hypothalamic amenorrhea, brain lesion, infection, infiltration, infarct, sarcoidosis, hemochromatosis, brain tumors, brain irradiation, traumatic brain injury, Sheehan's syndrome, isolated GnRH deficiency (Kallmann syndrome), Prader-Willi syndrome.
11
Question
What are some causes of ovarian insufficiency (hypergonadotropic hypogonadism)?
Answer
Congenital: gonadal dysgenesis (Turner syndrome); acquired: lesion, tumor, or infection in ovaries.
12
Question
What are some other endocrine diseases that can cause amenorrhea?
Answer
Polycystic ovary syndrome (PCOS), hyperprolactinemia, thyroid disease (hypothyroidism, hyperthyroidism), Cushing's syndrome, adrenal disease (congenital adrenal hyperplasia, adrenal insufficiency, adrenal tumors), obesity, uncontrolled diabetes mellitus.
13
Question
Describe hypogonadotropic hypogonadism.
Answer
Lack of stimulation by gonadotropins. Causes: hypothalamic lesion, pituitary lesion, defect in GnRH synthesis, constitutional delay of development.
14
Question
What is premature ovarian failure?
Answer
Failure of ovarian function before age 40, also known as premature menopause.
15
Question
What are the differences in primary vs secondary ovarian insufficiency?
Answer
Primary: Ovarian insufficiency despite adequate gonadotropin stimulation. Secondary: Ovarian insufficiency due to inadequate ovarian stimulation by the hypothalamus and/or pituitary.
16
Question
What anatomical presentations are associated with Mullerian agenesis?
Answer
Karyotype 46,XX, Breast development:Yes, Axillary and pubic hair:Yes, Uterus:No, Gonad:Ovary, Testosterone:Female levels, Associated anomalies:Yes
17
Question
What anatomical presentations are associated with Androgen Insensitivity?
Answer
Karyotype 46,XY, Breast development:Yes, Axillary and pubic hair:No, Uterus:No, Gonad:Testis, Testosterone:Male levels, Associated anomalies:No
18
Question
What are some examples of lower outflow tract obstruction?
Answer
Imperforate hymen, complete transverse vaginal septum, isolated vaginal atresia.
19
Question
What is cervical stenosis and what are some symptoms?
Answer
Narrowing of the internal or external cervical os. Symptoms: amenorrhea or abnormal bleeding, dysmenorrhea, and infertility.
20
Question
What are intrauterine adhesions (Asherman's syndrome)?
Answer
Superficial adhesions, dense bands, or complete obliteration of the uterine cavity.
21
Question
What is the diagnostic criteria for premature ovarian insufficiency?
Answer
Two serum FSH levels > 30 to 40 mUI/ml obtained at least 1 month apart.
22
Question
Describe the pathophysiology behind disgenesia gonadal.
Answer
Normal set of germ cells in the early fetal ovary but the oocytes undergo accelerated atresia and the ovary is replaced by a fibrous streak (streak gonad).
23
Question
What acquired autoimmune diseases may cause hypogonadism?
Answer
Lupus erythematosus systemic, Syndrome poliendocrinos autoinmunes, Addison's disease, diabetes mellitus type I, anemia perniciosa
24
Question
What are two inherited hereditary hypothalamic abnormalities?
Answer
Idiopathic hypogonadotropic hypogonadism (IHH), GnRH secreted is incapable of stimulating release of FSH and LH, associated to anomalies faciales (línea media), síndrome de Kallmann (olfato). No existen células productoras de GnRH porque no hay migración
25
Question
What are two acquired hypothalamic abnormalities?
Answer
Disfunción hipotalámica adquirida, trastornos alimentarios, ejercicio excesivo y estrés, Triada de la mujer atleta disfunción menstrual, baja disponibilidad de energía, baja densidad mineral ósea
26
Question
What are four hereditary hypophysis abnormalities?
Answer
displasia septo óptica , deficiencia de hormonas hipofisarias + defectos faciales centrales y/o neurológicos debido a una fusión fallida de la línea media, Mutaciones en gen PROP1 → sx septo-opto displasia, Mutaciones en genes que codifican subunidades beta de LH y FSH
27
Question
What is the treatment for Hypogonadism?
Answer
1.Changes in lifestyle, 2. Pharmacological treatment (Hormone replacement therapy, dopamine agonist), 3. Surgery (tumor or anatomical anomalies).
28
Question
What is a progestin challenge test?
Answer
Administer a progestogen for 5-10 days and evaluate for withdrawal bleeding within 14 days of stopping progestin.
29
Question
What is a estrogen-progesterone test?
Answer
Administer estrogen for 21-25 days and add progestogen for the last 5-10 days of estrogen administration then evaluate for withdrawal bleeding within 2-7 days after stopping progestin.
30
Question
What does a progestin challenge test result of withdrawal bleeding indicate?
Answer
Anovulation (PCOS, idiopathic anovulation)