Brief Description about basics of amenorrhea and special mention of causes of Pimary Amenorrhea...

1. AMENORRHEA
A PRESENTATION BY:-
PUSHKAR KUMAR
FINAL MBBS
SKMCH,MUZAFFARPUR

2. What Does Amenorrhea Means?
 Origin – Greek
 A = without ;
 Meno= Relating to Menstruation ;
 rrhea = discharge/flow
 An absence of menstruation
“ Amenorrhea Is A Symptom ; Not a
Disease “
The Final Diagnosis should be a
Pathological Diagnosis..

3. How Do We Classify Amenorrhea ?
PRIMARY AMENORRHEA
 1) the failure of onset of
menstruation by the age of
14 years in the absence of
secondary sexual characters
OR
 (2) by the age of 16 years with
or without secondary sexual
characters.
SECONDARY AMENORRHEA
 Cessation of menses for 3
cycles / 6 months in absence
of pregnancy/lactation.

4. H-P-O-U Axis
 Menarche :Requires:
 GnRH from the Hypothalamus
 FSH and LH from the Pituitary
 Estrogen and Progesterone from the Ovaries
 Normal Uterus & Outflow tract

5. Causes Of Primary
Amenorrhea

6. Compartment-I
(Uterine/Outflow Tract)
Pathologies
(NORMOGONADOTROPIC
NORMOGONADISM )
• MULLERIAN ABNORMALITIES :
1. UTERO-VAGINAL AGENESIS (MRKH
SYNDROME)-
2. IMPERFORATE HYMEN
3. TRANSVERSE VAGINAL SEPTUM
• TESTICULAR FEMINISATION
SYNDROME (AIS)

7. Mayer-Rokitansky-Kuster-Hauser(MRKH)
Syndrome :Utero-Vaginal agenesis
 15% of primary amenorrhea (2nd M/C Cause)
 Normal secondary development & 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

8. Imperforate Hymen
 An imperforate hymen is a congenital disorder where a hymen without an opening
completely obstructs the vagina.
 It is caused by a failure of the hymen to perforate during fetal development.

9. Androgen Insensitivity Syndrome (AIS)
 Normal breasts but sparse/absent
sexual hair
 Normal looking female external
genitalia
 Absent uterus and upper vagina
 Karyotype 46;XY
 Male range testosterone level
 Genotype-Male;Phenotype-Female
 M/C Cause of Male Intersex

10. Compartment-II
(Ovarian) Pathologies
(HYPERGONADOTROPIC
HYPOGONADISM )
1. TURNER SYNDROME-
45XO/MOSAIC/PARTIAL
DELETIONS
2. PURE GONADAL DYSGENESIS
3. MIXED GONADAL DYSGENESIS
4. PCOS
5. SAVAGE SYNDROME

11. Turner Syndrome (M/C Cause )
 Karyotype 45;XO
 Generally grow slowly so shorter in height
 Lymphadema at birth
 Webbed neck & Short Metacarpal IV
 Pigmented spots on the whole body
 Shield Chest with widely spaced Nipples
 DM ; Thyroid disorder
 Streak gonads/ovaries (Amenorrhea)
 Do not develop breast at puberty
 CVS ( Bicuspid aortic valve> Coarctation of
aorta) ; Horseshoe Kidney
 Cubitus Valgus

12. Gonadal Dysgenesis
PURE GONADAL DYSGENESIS
E.g. Swyer’s Syndrome
 46;XY + Defect in SRY-Gene
 Bilateral Streak Gonads
 Geno-Male ; Pheno- Female
 Infantile uterus present
 Height-Normal/Tall
 1° Amenorrhea
MIXED GONADAL DYSGENESIS
 Mosaics ( 46;XY + 45;XO )
 Testis Present
 Streak Ovary( 1° amenorrhea)
 Ambiguous Genitalia

13. Compartment-III
(Pituitary) Pathologies
(HYPOGONADOTROPIC
HYPOGONADISM )
1. CRANIOPHARYNGIOMA
2. PITUITARY ADENOMA:–
A)PROLACTINOMA
B)NON-FUNCTIONAL ADENOMA

14. Compartment-IV
(Hypothalamic)
Pathologies
( HYPOGONADOTROPIC
HYPOGONADISM )
1. CONSTITUTIONAL DELAY
(PHYSIOLOGICAL)
2. GENETIC-KALLMANN SYNDROME
3. MALNUTRITION
4. ANOREXIA/BULLEMIA NERVOSA
5. VIGOROUS EXERCISE/STRESS/ANXIETY

15. Kallmann Syndrome
 Congenital GnRH Deficiency
 Anosmia + Amenorrhea + Colour Blindness
 Poorly developed secondary sexual characters
 Cleft lip/ palate

16. Other Endocrine
Dysfunctions &
Systemic Causes
1. CONGENITAL ADRENAL HYPERPLASIA(CAH)
2. HYPER/HYPO-THYROIDISM
3. VIRILISING ADRENAL/OVARIAN TUMORS
4. GRANULOSA/THECA CELL TUMOR OF
OVARY
5. T.B./SYPHILIS

17. Congenital Adrenal Hyperplasia- CAH
 Autosomal Recessive Inheritance
 Deficiency of 21-Alpha-Hydroxylase enzme in >90% cases
 Decreased synthesis of both Cortisol and Aldosterone
 Decrease Cortisol production leads to increased ACTH and hence adrenal cortical hyperplasia
 Accumulated 17-Alpha-hydroxyprogesterone is diverted to Androgen production and Signs of
Androgen excess appears
 Aldosterone deficiency leads to Salt wasting
 Most common cause of Ambiguous Genitalia in females (Female Intersex)
 Vagina and uterus are present.
 Ovaries are usually polycystic in appearance and anovulatory. (Amenorrhea)

18. CAH

19. Evaluation
1st line Ix – USG
IOC - Karyotyping

23. Inquire 2° Amenorrhea Causes

24. THANK YOU !!!