amenorrhea

Question 1

Primary Amenorrhea def

Answer 1

is defined either as absence of menses by age 14 years with no development of secondary sexual characteristics
OR as absence of menses by age 16 years with normal development of secondary sexual characteristics.

Question 2

Secondary amenorrhea def

Answer 2

No menses for 3 months  if previous menses were regular.

No menses for 6 months  if previous menses were irregular

Question 3

Oligomenorrhea

Answer 3

Interval of more than 35 days between periods

Question 4

Events of Puberty

Answer 4

Thelarche (breast development)
Requires estrogen
Pubarche/adrenarche (pubic hair development)
Requires androgens

Menarche
Requires:
GnRH from the hypothalamus
FSH and LH from the pituitary
Estrogen and progesterone from the ovaries
Normal outflow tract

Question 5

ETIOLOGY OF PRIMARY AMENORRHEA

Answer 5

Secondary sexual characteristics present
Constitutional delay
Genito-urinary malformation, e.g. imperforate hymen, transverse vaginal septum, absent vagina with or without a functioning uterus
Androgen insensitivity
Resistant ovary syndrome
Pregnancy
Secondary sexual characteristics absent
Hypothalamic dysfunction, e.g. chronic illness, anorexia nervosa, weight loss, ‘stress’
Gonadotrophin deficiency, e.g. Kallman’s syndrome
Hypopituitarism
Hyperprolactinemia
Hypothyroidism
Gonadal failure, e.g. ovarian dysgenesis/agenesis, premature ovarian failure
Ambiguous external genitalia
Congenital adrenal hyperplasia
Androgen-secreting tumor
5-Alpha-reductase deficiency

Question 6

Turner’s syndrome

Answer 6

Turner’s syndrome is caused by either a complete absence or a partial abnormality of one of the two X chromosomes.
Features : short stature, web neck, lymphedema, shield chest with widely spaced nipples, short metacarpal bones and renal anomalies.
wide carrying angle, coarctation of the aorta.
• High FSH and LH levels.
• Bilateral streaked gonads.
• Karyotype - 80 % 45, X0
Treatment: HRT
20% mosaic forms (46XX/45X0) or 45X/46XY)

Question 7

Uterovaginal agenesis

Answer 7

15% of primary amenorrhea
Normal secondary development & external female genitalia
Normal female range testosterone level
Absent uterus and upper vagina & normal ovaries
Karyotype 46-XX
15-30% associated renal, skeletal and middle ear anomalies
ex Mayer-Rokitansky-Kuster-Hauser syndrome

Question 8

Androgen insensitivity syndrome

Answer 8

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
The testis present in the inguinal canal and liable to trauma, torsion and malignancy
The receptors in the external genitalia are not sensitive to testosterone and sometimes deficiency of 5alpha reductase which converst T to T2

Question 9

Imperforate hymen

Answer 9

Imperforate hymen represents the most common and most distal form of vaginal outflow obstruction
Clinical presentations range from an incidental finding on physical examination of an asymptomatic patient to discovery on an evaluation for primary amenorrhea or abdominal or back pain
The differential diagnosis of uterovaginal obstruction includes disorders of vaginal development, such as transverse vaginal septum or complete vaginal agenesis.
Incise the Hymen, drain the blood,
Needs IVP as there is up to 30% association with renal tract abnormalities.

Question 10

Hypogonadotrophic Hypogonadism

Answer 10

Normal hight
Normal external and internal genital organs (infantile)
 Low FSH and LH
 30-40% anosmia (kallmann’s syndrome)
Treat with HRT

Question 11

Constitutional delay

Answer 11

There is no anatomical abnormality or endocrine investigations show normal results
It is caused by immature pulsatile release of gonadotrophin-releasing hormone; maturation eventually occurs spontaneously
delayed bone age
( X-ray Wrist joint)
• Positive family history
• Diagnosis by exclusion and follow up

Question 12

Weight-related amenorrhoeaAnorexia Nervosa

Answer 12

1o or 2o Amenorrhea is often first sign
A body mass index (BMI) <17 kg/m² menstrual irregularity and amenorrhea
Hypothalamic suppression
Low estradiol  risk of osteoporosis
Treatment :  body wt. (Psychiatrist referral)

Question 13

ASSESSMENT OF PRIMARY AMENORRHEA

Answer 13

slides

Question 14

Etiology of secondary amenorrhea

Answer 14

No features of androgen excess present
Physiologic, e.g. pregnancy, lactation, menopause
Iatrogenic, e.g. depot medroxyprogesterone acetate contraceptive injection, radiotherapy, chemotherapy
Systemic disease, e.g. chronic illness, hypo- or hyperthyroidism
Uterine causes, e.g. cervical stenosis, Asherman’s syndrome (intra-uterine adhesions)
Ovarian causes, e.g. premature ovarian failure, resistant ovary syndrome
Hypothalamic causes, e.g. weight loss, exercise, psychological distress, chronic illness, idiopathic
Pituitary causes, e.g. hyperprolactinaemia, hypopituitarism, Sheehan’s syndrome
Features of androgen excess present
Polycystic ovary syndrome
Cushing’s syndrome
Late-onset congenital adrenal hyperplasia
Adrenal or ovarian androgen-producing tumor

Question 15

Polycystic ovary syndrome

Answer 15

This condition is characterized by hirsutism, acne, alopecia, infertility, obesity, and menstrual abnormalities (amenorrhea in 19% of cases)
Ultrasound examination of the ovaries typically shows multiple, small peripheral cysts. up to a third of women in the general population have polycystic ovaries on ultrasound examination .
Endocrine abnormalities include increased serum concentrations of testosterone, prolactin, luteinizing hormone (LH) (with normal follicle-stimulating hormone [FSH] levels), and insulin resistance with compensatory hyperinsulinemia

Question 16

Asherman’s Syndrome

Answer 16

Secondary amenorrhoea following destruction of the endometrium by overzealous curettage multiple intrauterine Synechiae show up on “Hysterography or hysterescopy”.

MANAGEMENT:
Under G.A. breakdown Adhesions through hysteroscopeinsert an IUCD to prevent reformation hormone therapy (E2 + P)

Question 17

Premature ovarian failure

Answer 17

Menopause/ovarian failure occurring before the age of 40 years is considered premature
Auto-immune disease is the most common cause; auto-antibodies to ovarian cells, gonadotrophin receptors, and oocytes have been reported in 80% of cases
Before puberty or in adolescents, ovarian failure is usually due to a chromosomal abnormality, e.g. Turner mosaic, or previous radiotherapy, or chemotherapy
Autoimmune related dysfunction
The most common association is with thyroid disease, but the parathyroids and adrenals can also be affected

Question 18

Hyperprolactinemia

Answer 18

A prolactinoma is the commonest cause of hyperprolactinemia (60% of cases)
Other causes include non-functioning pituitary adenoma (disrupting the inhibitory influence of dopamine on prolactin secretion)
dopaminergic antagonist drugs (e.g. phenothiazines, haloperidol, clozapine, methyldopa, cimetidine); primary hypothyroidism (thyrotrophin-releasing hormone stimulates the secretion of prolactin), or it may be idiopathic
Prolactin acts directly on the hypothalamus to reduce the amplitude and frequency of pulses of gonadotrophin-releasing hormone

Question 19

Progestogen-associated amenorrhea

Answer 19

Depot medroxyprogesterone acetate inhibits the secretion of gonadotrophins and thus suppresses ovulation
After 1 year of use, 80% of women have amenorrhoea or very scanty, infrequent vaginal bleeding
There is partial estrogen deficiency in women who use depot medroxyprogesterone acetate
The progestogen-only pill leads to reversible long-term amenorrhoea in a minority of women, due to complete suppression of ovulation
The levonorgestrel-releasing intra-uterine device commonly results in amenorrhoea after a few months. This is thought to be mainly a local effect, but suppression of ovulation can occur in some women (in some cycles)

Question 20

history taking

Answer 20

symptoms of pregnancy
Associated symptoms, e.g. galactorrhoea, hirsutism, hot flushes, dry vagina, symptoms of thyroid disease
Recent change in body weight
Recent emotional upsets
Previous menstrual and obstetric history
Previous surgery, e.g. endometrial curettage, oophorectomy
Previous abdominal, pelvic, or cranial radiotherapy
Family history, e.g. of early menopause
Drug history, e.g. progestogens, combined oral contraceptive, chemotherapy

Question 21

Acanthosis nigricans:

Answer 21

\Acanthosis nigricans: this hyperpigmented thickening of the skin folds of the axilla and neck is a sign of profound insulin resistance. It is associated with polycystic ovary syndrome
(PCOS) and obesity.

Breast examination for galactorrhoea
Pelvic examination

Question 22

Complications and prognosis

Answer 22

Osteoporosis: women with amenorrhoea associated with estrogen deficiency are at significant risk of developing osteoporosis. This increased risk persists even if normal menses are resumed. Estrogen deficiency is of particular concern in younger women as a desirable peak bone mass may not be attained
Cardiovascular disease
Young women with amenorrhoea associated with estrogen deficiency may be at increased risk of cardiovascular disease

Women with polycystic ovary syndrome have an increased risk of developing cardiovascular disease, hypertension, and type 2 diabetes [Hopkinson et al, 1998]
Endometrial hyperplasia: women with amenorrhoea but no associated oestrogen deficiency are at increased risk of endometrial hyperplasia and endometrial carcinoma
Infertility: women with amenorrhoea generally do not ovulate
Psychological distress: amenorrhea often causes considerable anxiety, many women have concerns about loss of fertility, loss of femininity, or worry about an unwanted pregnancy. The diagnosis of Turner’s syndrome, testicular feminization, or developmental anomaly can be traumatic for both girls and their parents