Causes Of Primary Amenorrhea

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 : Utero-vaginal agenesis (MRKH Syndrome)- Imperforate hymen Transverse vaginal septum Testicular Feminisation SYNDROME (AIS)

7. Mayer-Rokitansky-Kuster-Hauser(MRKH) Syndrome : Utero-Vaginal agenesis 15% of primary amenorrhea (2 nd 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 ) Turner syndrome- 45xO/mosaic/partial deletions Pure gonadal dysgenesis Mixed gonadal dysgenesis PCOS 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 ) Craniopharyngioma Pituitary Adenoma:– a)Prolactinoma b)Non-Functional Adenoma

14. Compartment-IV (Hypothalamic) Pathologies ( HYPOGONADOTROPIC HYPOGONADISM ) Constitutional Delay (Physiological) Genetic- Kallmann syndromE Malnutrition Anorexia/Bullemia nervosa 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 Congenital adrenal hyperplasia(Cah) Hyper/hypo-thyroidism Virilising adrenal/ovarian tumors Granulosa/theca cell tumor of ovary 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 1 st line Ix – USG IOC - Karyotyping

20. Inquire 2° Amenorrhea Causes

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