amenorrhea

Amenorrhea

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Definitions and Epidemiology

Primary amenorrhea– absence of normal menstruation in a patient

without previously established cycles – no periods by age 14 with no secondary sex

changes– absence of menarche by age 16 regardless of

secondary sex changes– no periods by 2 years after the start of secondary

sex changes– < 0.1-2.5% of reproductive age women


Definitions and Epidemiology

Secondary amenorrhea– absence of menses for 3 cycle lengths in

oligomenorrhea, or for 6 months after having regular menses

– 1-5% of the population


Clinical Presentation

History– milestones, development, diet, exercise, wt

change– drug use (antipsychotics, hormones, narcs, anti-

HTN’s– systemic disease (hypothyroidism, adrenal insuff.,

GH excess)– past surgery, glactorrhea, hirsutism– gyn/ob hx (hemorrhage, D&C, infection)– genetic history


Clinical Presentation Physical

– ht, wt, vitals– signs of thyroid dz (protuberant eyes, enlarged gland, puffy

face, heat/cold intolerance)– secondary sex changes

• thelarche (breast devel): avg. age 10.8 yrs; indication of estrogen exposure

• adrenarche (pubic/axillary hair development): avg. age 11 and indicates ovarian and adrenal androgen production and end organ response

– decreased breast size or vaginal dryness indication decreasing estrogen exposure (or increasing androgens)

– presence of a cervix (confirms presence of a uterus)


Etiology Primary amenorrhea

– gonadal failure is most common cause– uterovaginal agenesis is second most common cause

Anorexia nervosa is the most common cause of amenorrhea overall in teens

Secondary amenorrhea– pregnancy is most common cause– 49-62% have hypothalamic disorders, including PCO– 7-16% have pituitary disorders– 10% have ovarian disorders– 7% have Ashermans syndrome


DDx and Tx in Primary Amenorrhea:2nd sex changes absent, cervix present

– 50% of patients– primary ovarian disorders

• Turner’s sd; pure gonadal dysgenesis; chromosomal mosaics; structural abnormalities of the sex chromosomes

– CNS, hypothalamic, or pituitary failure• anatomic lesions; Kallman’s sd; anorexia nervosa or

bulimia; exercise induced; constitutional delay; hyperprolactinemia

– Endocrinopathies (17 alpha hydroxylase deficiency)



Work up includes measuring FSH– if >40 and less than 30y/o

• do karyotype– if Y chromosome exists, excise gonads– if 46XX, r/o 17a-hydroxylase deficiency

• replace estrogen/progesterone, and if 17a-hydroxylase deficient, replace steroids also



– if low, then a problem with the CNS, hypothalamic, or pituitary exists

• measure serum prolactin• consider CT• no karyotype needed (all are 46XX)• replace estrogen/progesterone• consider GH• fertility requires assistance


DDx and Tx in Primary Amenorrhea:2nd sex changes present, cervix present May present w/ primary or secondary amenorrhea 1/3 of pts with primary amenorrhea have breasts and

a uterus, 1/4 of these have hyperprolactinemia CNS or hypothalamic causes

• anatomic lesions (can appear with or without secondary sex changes

• drugs affecting prolactin levels (stimulators and inhibitors)

• stress, exercise, and eating disorders• PCOS• functional hypothalamic amenorrhea


DDx and Tx in Primary Amenorrhea:2nd sex changes present, cervix present

Pituitary causes Ovarian causes (elevated gonadotropin and

low estrogen)– radiation and chemo; premature ovarian

failure; ovarian resistance sd; PCOS; infection; vascular injury; cystetomy

Uterine causes (only group in this category who will show normal endocrine findings


DDx and Tx in Primary Amenorrhea:2nd sex changes present, cervix present Work up

– r/o pregnancy– r/o hyperprolactinemia– if prolactin level elevated, evaluate thyroid function– measure FSH and LH– measure 17a-hydroxylase progesterone and progesterone– do a progesterone challenge test

Treatment– dopamine agonist therapy– combination OCP therapy– estrogen replacement


DDx and Tx in Primary Amenorrhea:2nd sex changes present, cervix absent

androgen insensitivity (testicular feminization sd) mullerian anomalies or agenesis work up

– karyotype and testosterone level– if nl body hair and female testosterone levels, uterine agenesis

is present and pt is sterile• karyotype is to r/o male pseudohermaphrodism• IVP should be done to r/o renal anomalies• may need reconstructive surgery

– pts with AI are usually raised as girls (XY)• remove gonads after breast development and epiphyseal

closure• replace estrogen


DDx and Tx in Primary Amenorrhea:2nd sex changes present, cervix absent

– if nl body hair and female testosterone levels, uterine agenesis is present and pt is sterile

• karyotype is to r/o male pseudohermaphrodism• IVP should be done to r/o renal anomalies• may need reconstructive surgery

– pts with AI are usually raised as girls (XY)• remove gonads after breast development and

epiphyseal closure• replace estr


DDx and Tx in Primary Amenorrhea:2nd sex changes absent, cervix absent

<1% of primary amenorrhea– pts are 46XY, but have abnormality in

testosterone synthesis– mullerian inhibiting factor causes internal

female organs to regress DDx

– 17a-hydroxylase deficiency– 17,20 desmolase deficiency– agonadism


DDx and Tx in Primary Amenorrhea:2nd sex changes absent, cervix absent

Lab: elevated gonadotropins and low-normal female testosterone levels

Tx: remove testicles and replace estrogen; no need for progesterone


Secondary Amenorrhea

Differential– similar to that of primary amenorrhea with cervix and

secondary sex changes present Work up

– r/o pregnancy– r/o hyperprolactinemia– if prolactin level elevated, evaluate thyroid function– measure FSH and LH– measure 17a-hydroxylase progesterone and

progesterone– do a progesterone challenge test


Secondary Amenorrhea

Treatment– dopamine agonist therapy– combination OCP therapy– estrogen replacement


amenorrhea

Documents

secondary amenorrhea

sex changespresent

sex changesabsent

secondary sex changes

start of secondary sex

present w primary

ro renal anomalies

sterile karyotype