1. Amenorrhea

2. Definition Of Amenorrhea
Is complete absence of menstruation in the childbearing period.

3. Definition Of Amenorrhea
ORIGIN from Greek
A = without
Meno = relating to menstruation
rrhea = discharge, flow
Absence of menstruation.

4. Background Understanding normal menstruation.
Classification of amenorrhea.
Amenorrhea is a Symptom not a disease, so the final diagnosis should be pathological .

5. Pre-requisities for normality of menstruation
Coordinated Neuro endocrine Axis.
Responsive ,patent Utero vaginal canal.
Good general health .

6. Coordinated pituitary- ovarian –uterine Axis
VARIABLE
CONSTANT

7. Classifications Of Amenorrhea
According to the onset:
Primary amenorrhea.
Secondary amenorrhea.
According to the cause:
Physiological.
Pathological
According to Hidden or apparant:
False amenorrhea (Crypto menorrhea).
True amenorrhea.
These are complementary to each other

8. Primary & Secondary
Secondary
Primary

9. pubertal changes - Marshall & Tanner
Regular sequence of events between ages of yrs in girls
GROWTH SPURT yrs (9 yrs)
cm / yr peak
2.5 yrs duration
BREAST GROWTH (Thelarche) yrs (11 yrs)
PUBIC HAIR (Pubarche) yrs
1st Pubertal Sign in 25%
AXILLARY HAIR (Adrenarche) yrs
may follow menarche
MENSTRUATION (Menarche) yrs (13 yrs) 9

10. According to cause Physiological. Before puberty. During pregnancy.
During lactation .
During menopause
Pathological:
Primary:
True
( physiologic & pathologic)
False
Secondary:

11. Hidden or true : Crypto menorrhea = Obstruction of outflow tract below internal OS :
Primary:
Cervical atresia .
Vaginal aplasia.
Transverse vaginal septum
Imperforate hymen
Secondary:
Cervical Cauterization.
Cervical conization ( Leep diathermy) .
Vaginal synechiae

12. Workup FOR DIAGNOSIS Exclude physiologic causes Exclude anatomical.
Clinical workup

13. Exclude physiologic causes

14. Crypto menorrhea - Possible difficulty with micturition
- Intermittent abdominal pain
- Possible difficulty with micturition
- Possible lower abdominal swelling
Bulging bluish membrane at the introitus or absent vagina (only dimple)

15. False (crypto menorrhea)
hematocolpos
hematometra 15

16. Four phenotypes (Breast & uterus )
Clinical workup
Four phenotypes (Breast & uterus )
1. Absent breast + presence of uterus
2. Presence breast + absence uterus
3 Absence breast + absence uterus
4. Presence breast + presence uterus

17. Breast is absent in cases with
Hypogonadism

18. Absent breast + presence of uterus (Hypogonadism)
Serum FSH
LOW (less than 5 IU/l.)
HIGH (more than 20 IU/l)
Hypothalamo - pituitary
PRIMARY OV. FAILURE
GnRH challenge .
LOW FSH
HIGH FSH
Gonadal dysgenesis
KARYOTYPE
Gonadal biopsy
PITUITARY
HYPOTHALAMIC
History , exam & investigation

19. Gonadal dysgenesis (Turner’s syndrome)
• Sexual infantilism and short stature.
• Associated abnormalities:
webbed neck,
cubitus valgus
coarctation of the aorta,
high-arched palate,
broad shield-like chest with widely spaced nipples,
short metacarpal bones
Renal anomalies.
• Bilateral streaked gonads.
• Karyotype % 45, X0
- 20% mosaic forms (46XX/45X0)
• Treatment: HRT

20. Gonadal Dysgenesis (Turner’s syndrome)

21. Causes of hypothalmo - pituitary
Congenital
Traumatic
Inflammatory
Neoplastic
Miscellaneous

22. Hypothalamus & Pituitary (Hypogonadotropic )
Stress
Weight changes :anorexia nervosa ,bulimia
Exercise
Psuedocyesis
Syndromes
Pituitary :
Craniopharyngioma.
Adenomas.
syndromes . e.g. Sheehan's syndrome

23. Emotional stress
Emotional shock
Stress Endorphins
Gn Rh

24. Weight changes Excess weight gain : Diet regimen Anorexia nervosa
Weight loss (15% of ideal wt for age) whether By:
Diet regimen
Anorexia nervosa
Excess weight gain :
simple overeating
Bulimia nervosa. 24

25. Kallmann Syndrome Deficient secretion of GnRH + anosmia.
Possible co-existing features include:
Bone anomalies.
Renal anomalies.
Cleft lip and palate.
Color blindness. .

26. Frolich syndrome
Primary amenorrhea.
Hypogonadism.
Trunkal obesity.

27. Laurence-Moon -Biedle syndrome
As Frolich syndrome with:
Polydactyl.
Syndactly.
Mental retardation.
Retinitis pigmentosa.

28. Craniopharyngioma
Arises from remnants of Rathke's pouch
Compresses the hypothalamus
Suppress GnRH secretion .
Interrupt portal flow of GnRH in the pituitary stalk.
Calcifications may be apparent on radiography of the sella turcica.
Frequent manifestations include visual field defects and blurring vision.

29. Galactorrhoea + amenorrhea.
Chiari-Frommel syndrome
It occurs after delivery: due to persistent Prolactin secretion.
Delcastello syndrome:
It is not preceded by delivery.

30. Levi- Lorian Syndrome (Pituitary infantilism)
Amenorrhea.
Hypogonadism.
Short stature (Dwarfism).

31. Sheehan's syndrome &Simmonds
Postpartum hge.
Failure of gonadotrphic function + failure of lactation.
More extensive damage lead to :
Simmonds : (Destruction of the anterior pituitary gland due to septic emboli due to puerperal sepsis.)

32. Pituitary Adenoma
Evaluation of the sella turcica with (MRI) + radiography is necessary.
Vary in size.
Micro adenomas (less than 10 mm).
Macro adenomas (more than 10 mm).
May be associated with:
Visual changes.
Galactorrhoea.
Hypothyroidism.
Amenorrhea

33. Work up for : hypothalamic- pituitary
History
Exam
Investigation…
Then:
Categorize as primary or secondary
Categorize cause……..

34. History in primary amenorrhea
Developmental milestones (age of growth spurt ,age of thelarche, adrenarche)
Chronic illness (CRI ,TB, Bl disease).
Weight changes
Excessive exercise
History of anosmia

35. Examination
General condition
Height
BMI
2ndary sex characters

36. Investigations Bed –side: Laboratory: Imaging: Instrumental:
Visual field in suspected pituitary adenoma
Laboratory:
BHCG: to exclude pregnancy
Serum prolactin
TSH
Imaging:
Ultrasound : prove presence or absence of uterus, measure its size CT
MRI
Instrumental:
Hysteroscopy: uterine synechia
Laparoscopy

37. 2. Presence breast + absence uterus
Sexual hair & Karyotype
46-XY
46-XX
Andogen Insenitivity (TSF syndrome)
Mullerian
Agenesis
(MRKH syndrome)
Absent sexual
hair
Presence of sexual hair

38. Utero-vaginal Agenisis Mayer- Rokitansky- Kuster-Hauser syndrome
Normal breasts.
N. sexual hair development .
Normal looking external female genitalia
Normal female range testosterone level
Absent uterus and upper vagina
Normal ovaries
Karyotype 46-XX
15-30% renal, skeletal and middle ear anomalies.
Treatment :
STERILE? Vaginal creation : Dilatation & Vaginoplasty) 38

39. Testicular feminization syndrome
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 (Vaginoplasty ) 39

40. Vaginal Agenesis: Comparison of Two Syndromes
Mullerian Agenesis
Androgen Insensitivity Syndrome
Vagina
absent
Pubic hair
present
Breasts
Present
Gonads
ovaries
Testes
Uterus
Absent
Testestrone level
Female level
Male level
Karyotype
46 XX
46 XY

41. 3. absence breast + absence uterus
17, 20 desmolase deficiency
17 a hydroxylase deficiency
Agonadism
Very rare
All are 46 XY

42. Degeneration of the testes (in utero) after the production of the MIF
AGONADISM
Degeneration of the testes (in utero) after the production of the MIF

43. 4. Presence breast + presence uterus (Like secondary amenorrhea)
PREGESTERONE
BLEEDING
NO BLEEDING
CHRONIC ANOVULATION
e.g PCOS
COMBINED OESTROGEN
& PROGESTERONE
BLEEDING
NO BLEEDING
OVARIAN FAILURE
( Non dysgenetic)
UTERINE FACTOR
( Ashermann syndrome)
SERUM FSH

44. Summary of Sub-phenotypes Amenorrhea
Breast – Absent
Uterus Absent
Uterus Present
17, 20 desmolase deficiency
1. Gonadal failure turner 45X
17 a hydroxylase deficiency 46xy
Gonadal dysgenisis
Agonadism
17 a hydroxylase deficiency with 46XX
2. Hypothalamic failure
3. Pituitary failure
Breast – Present
AIS (T.F.)
Hypothalamic, pituitary, ovarian & uterine etiology
Mullerian agenesis

45. General Principles of management
Try causative Treatment.
Do not forget general factors
Remember stress is common cause in adolescents
Pregnancy is the commonest cause of secondary amenorrhea

46. General Principles of management
. HRT: (estrogen and progesterone)
In hypo-estrogenic amenorrheic women (to prevent osteoporosis)
. Periodic progestogen:
In euestrogenic amenorrheic women (to avoid endometrial cancer)
. If Y chromosome is present: gonadectomy is indicated
. Many cases require frequent re-evaluation

47. Thank you