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AMENORRHOEA
Amenorrhoea is the absence of menses in a woman of reproductive age
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Secondary amenorrhoea is absence of periods for at least 3 months if the patient has previously had
regular periods, and 6 months if she has previously had oligomenorrhoea
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Aetiology of amenorrhea in adolescents (from Golden and Carlson)
OestrogenOestrogenType
deficient
replete
Hypothalamic
Pituitary
Eating disorders
Exercise-induced amenorrhea
Medication-induced amenorrhea
Chronic illness
Stress-induced amenorrhea
Kallmann syndrome
Hyperprolactinemia
Prolactinoma
Craniopharyngioma
Isolated gonadotropin deficiency
Thyroid
Immaturity of the HPO axis
Hypothyroidism
Hyperthyroidism
Congenital adrenal hyperplasia
Cushing syndrome
Polycystic ovary syndrome
Adrenal
Ovarian
Gonadal dysgenesis
(Turner syndrome)
Premature ovarian failure
Ovarian tumour
Chemotherapy, irradiation
Uterine
Vaginal
Pregnancy
Androgen insensitivity
Uterine adhesions(Asherman syndrome)
Mullerian agenesis
Cervical agenesis
Imperforate hymen
Transverse vaginal septum
Vaginal agenesis
The recommendations for those who should be evaluated have recently been changed to those shown
below
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An adolescent who has not had menarche by age 15-16 years
2
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An adolescent who has not had a menarche by age 13-14 years
and no secondary sexual development
4
...
The most common cause in adolescents is hypothalamic
amenorrhoea (associated with anorexia nervosa, exercise, or chronic illness) followed by polycystic
ovarian syndrome (PCOS)
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Administration of progesterone (Provera, 10mg orally per day for 7 days) to an adolescent girl after 2–
3 months of secondary amenorrhea will prevent DUB (dysfunctional uterine bleeding) from occurring
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HISTORY
History of the development of secondary sex characteristics, sexual activity, evidence of psychological
dysfunction or emotional stress, age of maternal menarche, family history of possible genetic
anomalies or diabetes, the presence of galactorrhoea, symptoms of a thyroid disorder, weight loss or
gain, hirsutism or menopausal symptoms should be sought
...
g
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INVESTIGATIONS
These are divided into basic investigations which should be performed in all patients, and further
investigations dictated by physical findings and history
...
In hyperprolactinaemia a cranial MRI should be performed
If PCOS is suspected (see PCOS fact sheet) do testosterone, SHBG, free androgen index,
androstenedione, and 17-OHP
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A course of a
progestational agent is administered (e
...
oral medroxyprogesterone acetate, 10 mg daily for 5 days)
...
If she does, the presence of a
functional outflow tract and a uterus lined by reactive endometrium sufficiently prepared by
endogenous oestrogen is confirmed
...
This can happen where the endometrium is decidualised in
response to high levels of androgens (e
...
with polycystic ovaries), or high progesterone levels
associated with a specific adrenal enzyme deficiency
...
2
...
Patients have low LH, FSH, and oestrogen levels with preserved LH
and FSH responsiveness to GnRH
...
A
number of rare hypothalamic space occupying lesions can present with amenorrhoea
...
Kallman’s syndrome describes a rare (1: 50 000) congenital absence of the development
of GnRH neurons between the hypothalamus and pituitary
...
Failure of the GnRH message reaching the pituitary prevents initiation of FSH and LH synthesis, with
primary amenorrhoea and failure of sexual development
...
Circulating
concentrations of prolactin may also be moderately increased in polycystic ovary syndrome, SLE,
rheumatoid arthritis, chronic renal failure, and hypothyroidism and by stress, leading to possible
diagnostic confusion
...
Pathological hyperprolactinaemia will be associated with
amenorrhoea and, in most but not all cases, galactorrhoea
...
Some macroadenomas, and most microadenomas will respond to drug therapy with dopaminergic
agents such as bromocriptine and cabergoline
...
The more recent introduction of cabergoline has reduced GI side effects
and allowed a less frequent and more convenient dosing regime
...
Craniopharyngioma
These are epithelial tumours arising from the craniopharyngeal duct in the sellar or parasellar region
and can have an associated LH and FSH deficiency
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In many, improvement of
symptoms can result from weight loss
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Gonadal Dysgenesis
Gonadal dysgenesis refers to a number of conditions in which gonadal development is abnormal,
leading to streak gonads
...
The most common form is Turner syndrome (45,X karyotype), but other forms do exist, such as pure
gonadal dysgenesis (where the karyotype is normal) and Swyer syndrome (XY gonadal dysgenesis)
...
The number of primordial follicles in this pool varies from individual to
individual, and can be depleted by medical interventions including chemo and radiotherapy
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Rarer causes include galactosaemia (even in treated patients),
mumps oophoritis, Trisomy 21, female fragile X carriers, sarcoidosis
...
Cessation of periods will be preceded by several years of irregular or more frequent menses, with hot
flushes, sweats and other hypo-oestrogenic symptoms
...
The
presentation will depend upon the level at which the tract is blocked
...
She may also have intermittent abdominal pain,
difficulty with micturition and a palpable lower abdominal swelling
...
The treatment involves surgical incision of the
membrane
...
In all cases surgery should be
performed to re-establish continuity of the genital tract
...
Mullerian Agenesis
Primary amenorrhoea with no apparent vagina occurs due to a lack of Mullerian development
...
The uterus may be absent or abnormal (eg only
rudimentary bicornuate cords present)
...
The peripheral karyotype is normal 46, XX
female in contrast to testicular feminisation
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The syndrome, often referred to as Mayer–Rokitansky–Kuster–Hauser syndrome, is the second most
common cause of primary amenorrhea
...
Renal tract abnormalities (ectopic kidney, renal agenesis, horseshoe
kidney and abnormal collecting ducts) are present in 30% of cases and skeletal abnormalities (mostly
involving the spine) in 12%
...
A blind vaginal canal is found with an absent uterus
...
Growth and development are normal
...
Labia minora are usually underdeveloped
...
Thus circulating androgens are normal or
slightly elevated, but the critical steps in sexual differentiation which require androgens fail to take
place and development is totally female
...
The testes may be intra-abdominal, but are often in an inguinal hernia
...
The incidence of malignancy is high and the gonads should be surgically removed
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This is in contrast to other cases where gonads with a Y chromosome
should be removed as soon as a diagnosis is made
...
Imperforate Hymen
Imperforate hymen occurs in 1 in 1,000 women
...
The
typical physical finding is a bulging, bluish hymen, behind which is a blood-filled mass in the
distended vagina (hematocolpos)
...
The thickness
and placement of the septum may vary: lower vagina, middle vagina, or upper vagina
...
Though a
perforation in the septum is often present, patients may still present with amenorrhea and
hematocolpos
...
THYROID DISORDERS
Hypothyroidism
Although hypermenorrhoea or oligomenorrhoea are the more prevalent menstrual disorders,
amenorrhea can also be seen and is thought to be due to increased prolactin secondary to raised TSH
...
ADRENAL CAUSES
Congenital Adrenal Hyperplasia
CAH refers to a group of autosomal recessive disorders of steroidogenesis
...
The two other major enzyme deficiencies are deficiencies of 11-betahydroxylase and 3-beta-hydroxysteroid dehydrogenase
...
The classic form
usually presents in infancy with salt wasting or ambiguous genitalia
...
The nonclassic form is one of the most frequently seen autosomal genetic disorders and
occurs in approximately 0
...
This nonclassic form of congenital adrenal
hyperplasia usually presents in childhood and is characterized by premature pubarche and in
adolescence by hirsutism or amenorrhoea
...
In adolescents, Cushing syndrome is
most frequently caused by iatrogenic exogenous administration of corticosteroids
...
The clinical findings are usually self-evident
...
The pathophysiology is direct suppression of the HPO axis
...
JL; The Pathophysiology of Amenorrhoea in the Adolescent
...
N
...
Acad
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1135: 163–178 (2008)
Diaz A, Laufer MR & Breech LL
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Menstruation in girls and adolescents: using the menstrual
cycle as a vital sign
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