PRIMARY

AMENORRHOEA
Senaratne HMS
 Definition ?
The failure to menstruate by
the age of 16 years in the
presence of normal
secondary sexual
characteristics, or
14 years in the absence of
other evidence of puberty
 Lesion where ?
Outfow tract
Ovary (abnormal or absent germ
cells and abnormal folliculogenesis),
Anterior pituitary (disrupted
gonadotrophin production or
secretion)
CNS (disrupted hypothalamic
factors affecting pituitary signalling)
 Disorders of the
outfow tract
Mechanical ; Mllerian
agenesis/dysgenesis,
Rokitansky syndrome,
transverse septa
imperforate hymen
Androgen receptor abnormality ;
Androgen insensitivity
syndrome
Disorders of the ovary

Abnormal/absent germ cells ;

(genetic/spontaneous/acquired)
Gonadal agenesis/dysgenesis,
Turners syndrome
premature ovarian failure
Resistant ovary syndrome
Abnormal folliculogenesis ;
PCOS
 Disorders of anterior
pituitary
function
Pituitary adenomas, especially
macroprolactinoma
Druginduced
hyperprolactinaemia
Hypothyroidism
Empty sella syndrome
 Disorders of the CNS

Hypothalamic factors leading to

abnormal GnRH
production/transport/release
Stress
Exercise
weightrelated amenorrhoea
Kallmanns syndrome
 AMENORRHOEA
AN APPROACH FOR DIAGNOSIS
HISTORY
PHYSICAL EXAMINATION
ULTRASOUND EXAMINATIO

Exclude Pregnancy
 HOW DO YOU
INVESTIGATE ?
 Evaluation of Primary Amenorrhea
History and physical examination

Secondary sexual characteristics present

No Yes
Measure FSH and LH levels Perform ultrasonography of uterus

FSH and LH FSH > 20 IU/ L and Uterus absent Uterus present
< 5 IU/ L LH > 40 IU/ L or abnormal or normal

Hypergonadotropic
Hypogonadotropic Karyotype analysis Outflow obstruction
hypogonadism
hypogonadism
Yes No
Karyotype analysis 46, XY 46, XX
Evaluate for
secondary
CNS; HP amenorrhea
Disorder
Androgen Mullerian
Gonadal Agenesis Imperforate
Sensitivity
Failure hymen or
Syndrome
transverse
vaginal septum
 AMENORRHEA
Normal secondary sex
Characteristics
 IF SECONDARY SEXUAL
CHARACTERISTICS
PRESENT;
1.Imperforated hymen
2.Transverse vaginal septum
3.Absent vagina with
functioning/nonfunctioning
uterus
4.XY female
 USS
Ut present Imperforated hymen,
Transverse vaginal septum
Absent vagina with
functioning/nonfunctioning uterus
2.If Ut absent KaryotypexxMRKH
 Cryptomenorrhea

Outflow obstruction to menstrual blood

Imperforate hymen
Transverse Vaginal septum with
functioning uterus
Isolated Vaginal agenesis with
functioning uterus
Isolated Cervical agenesis with
functioning uterus
 Cryptomenorrhea

Intermittent abdominal pain

Possible difficulty with micturition
Possible lower abdominal swelling
- Bulging bluish membrane at the
introitus or absent vagina (only
dimple)
Imperforate hymen
 Mayer-Rokitansky-
Kuster-Hauser syndrome
 Mayer-Rokitansky-Kuster-
Hauser syndrome
15% of 1ry amenorrhea
Normal secondary sexual
characteristics
Absent uterus and upper vagina
& Normal ovaries
Karyotype 46-XX
15-30% renal, skeletal and middle
ear anomalies
Treatment : STERILE ? Vaginal
creation
Androgen insensitivity
Testicular feminization
syndrome
X-linked trait .
Normal breasts but no sexual
hair
Normal looking female external
genitalia
Absent uterus and upper vagina
Karyotype 46, XY
Male range testosterone level
Treatment : gonadectomy after
puberty + HRT
Vaginal creation
 AMENORRHEA
Absent or poor secondary
sex Characteristics
 Absent or poor
secondary sex
Characteristics
Height ?
 ABSENT SECONDARY
SEXUAL
CHARACTERISTICS
-normal
1.Kallman height
syndrome
2.Wt loss
3.Exercise
4.Hyperprolactinaemia
5.Gonadal agenesis/dysgenesis
6.Ovarian failure
 AMENORRHEA
Normal secondary sex
Characteristics
-FSH, LH, Prolactin, TSH
-Progesterone chalenge test

Prolactin + Bleeding No bleeing

TSH

- Mild hypothalamic
dysfunction
- PCO (LH/FSH) Review FSH result
And history
 Non-dysgenesis ovarian
failure
Steroidogenic enzyme defects (17-
hydroxylase)
Ovarian resistance syndrome
Autoimmune oophoritis
Postinfection (eg. Mumps)
Postoopherectomy
Postradiation
Postchemotherapy
Polycystic ovary
syndrome
 Polycystic ovary
syndrome
The most common cause of chronic
anovulation
Hyperandrogenism ; LH/FSH ratio
Insulin resitance is a major biochemical
feature ( blood insulin level
hyperandrogenism )
Long term risks: Obesity, hirsutism,
infertility, type 2 diabetes, dyslipidemia,
cardiovasular risks, endometrial
hyperplassia and cancer
Treatment depends on the needs of the
patient and preventing long term health
problems
Hypogonadotrophic
Hypogonadism
 Hypogonadotrophic
Hypogonadism
Normal height
infantile external and internal genital organs
Low FSH and LH
MRI intra-cranial pathology.
30-40% anosmia (kallmanns syndrome)
Sometimes constitutional delay
Treat according to the cause (HRT),
potentially fertile.
Weight-related
amenorrhoea
Anorexia Nervosa
 Weight-related
amenorrhoea
Anorexia Nervosa
1o or 2o Amenorrhea is often first sign
A body mass index (BMI) <17 kg/m menstrual
irregularity and amenorrhea
Hypothalamic suppression
Low estradiol risk of osteoporosis
Bulemics less commonly have amenorrhea due to
fluctuations in body wt, but any disordered eating
pattern (crash diets) can cause menstrual
irregularity.
Treatment : body wt. (Psychiatrist referral)
 Exercise-associated
amenorrhoea
Common in women who
participate in sports (e.g.
competitive athletes,
ballet dancers)
Hypothalamic disorder
caused by abnormal
gonadotrophin-releasing
hormone pulsatility,
resulting in impaired
gonadotrophin levels,
particularly LH, and
subsequently low
oestrogen levels
 ABSENT SECONDARY
SEXUAL
CHARACTERISTICS-
normal
1.Congenital height
infection
2.Trauma
3.Empty sella syndrome
4.Tumours
5.Turners syndrome
Turners syndrome
 Turners syndrome
short stature.
Associated abnormalities, webbed neck,coarctation
of the aorta,high-arched pallate, cubitus valgus,
broad shield-like chest with wildely spaced nipples,
low hairline on the neck, short metacarpal bones
and renal anomalies.
High FSH and LH levels.
Bilateral streaked gonads.
Karyotype - 80 % 45, X0
- 20% mosaic forms (46XX/45X0)
Treatment: HRT
Turners syndrome
 congenital adrenal
hyperplasia
Autosomal recessive trait
Most common form is due to 21-
hydroxylase deficiency
Mild forms Closely resemble PCO
Severe forms show Signs of
severe androgen excess
High 17-OH-progesterone blood
level
Treatment : cortisol replacement
and ? Corrective surgery
Constitutional pubertal
delay
 Constitutional pubertal
delay
Common cause (20%)
short stature and delayed bone age
( X-ray Wrist joint)
Positive family history
Diagnosis by exclusion and follow up
Prognosis is good
No drug therapy is required
Reassurance
GENERAL PRINCIPLES OF
MANAGEMENT OF AMENORRHEA

1. attempts to restore ovulatory function by

treating underlying cause
2. if not possible, HRT (estrogen and
progesterone) is given to hypo-estrogenic
amenorrheic women
3. periodic progestogen may be given instead
for anovulatory women
4. if Y chromosome is present gonadectomy is
indicated
5. create outflow tract or at least a sexually
functional vagina
6. many cases require frequent re-evaluation
Thank you