PRIMARY AMENORRHOEA

Prof. M.C.BansalMBBS., MS., FICOG., MICOG.

Founder Principal & Controller,Jhalawar Medical College & Hospital Jjalawar.

MGMC & Hospital , sitapura ., Jaipur

DIFFERENTIAL DIAGNOSIS OF PRIMARY AMENORRHOEA

A. Anatomic abnormalities of the genital outflow tract1. Müllerian dysgenesis (Rokitansky–Küster–Hauser syndrome)2. Distal genital tract obstruction

a. Imperforate hymenb. Transverse vaginal septum

B. Hypergonadotropic (follicle–stimulating hormone >30 mIU/mL) hypogonadism (gonadal “failure”)

1. Gonadal dysgenesis with stigmata of Turner syndrome2. Pure gonadal dysgenesis

a. 46,XXb. 46,XY3. Early gonadal “failure” with apparent normal ovarian

development

• C. Hypogonadotropic (luteinizing hormone and follicle–stimulating hormone <10 mIU/mL) hypogonadism

• 1. Constitutional delay• 2. Isolated gonadotropin deficiency

• a. Associated with midline defects (Kallmann syndrome)

• b. Independent of associated disorders• c. Prader–Labhart–Willi syndrome• d. Laurence–Moon–Bardet–Biedl syndrome• e. Many other rare syndromes

• 3. Associated with multiple hormone deficiencies• 4. Neoplasms of the hypothalamic–pituitary area

• a. Craniopharyngiomas• b. Pituitary adenomas• c. Other

• 5. Infiltrative processes (Langerhans cell–type

histiocytosis)

• 6. After irradiation of the central nervous system

• 7. Severe chronic illnesses with malnutrition

• 8. Anorexia nervosa and related disorders

• 9. Severe hypothalamic amenorrhea (rare)

• 10. Antidopaminergic and gonadotropin–releasing

hormone–inhibiting drugs(especially psychotropic

agents, opiates)

• 11. Primary hypothyroidism• 12. Cushing syndrome• 13. Use of chemotherapeutic (especially alkylating)

agents• II. Asynchronous pubertal development• A. Complete androgen insensitivity syndrome (testicular

feminization)• B. Incomplete androgen insensitivity syndrome

DISCUSSION

FSH

Peripheral signals

Leptin, Ghrelin

HYPOTHALAMUS

Central signalsGABA,

NPY,GLUTAMATE

ANT. PITUITARY

GnRH

Kisspeptin-GPR54 system

LH

FSH LH

ESTRADIOLINHIBIN

GRAN THE

Follicular growthMid cycle LH peak

Androgen production

Aromatisation of androgens

OVARY

• WHO divides patients into groups based on endogenous oestrogen production, follicle-stimulating hormone (FSH) levels, prolactin levels, and hypothalamic-pituitary dysfunction.

• This classification is a guide that eliminates several diagnoses based on initial information. However, further work-up is still required.

• Group I: low oestrogen, low FSH, and no hypothalamic-pituitary pathology, leading to a diagnosis of hypogonadotrophic hypogonadism.

• Group II: normal oestrogen, normal FSH, and normal prolactin, leading to a diagnosis of polycystic ovary syndrome.

• Group III: low oestrogen and high FSH, leading to a diagnosis of gonadal failure.

APPROACH TO A CASE OF PRIMARY AMENORRHOEA

HISTORY & CLINICAL EXAM

ASYNCHRONOUS DEVELOPMENTBREAST > PUBIC HAIR

ANDROGEN INSENSITIVITY

IMMATURE SECONDARY SEXUAL CHARACTERISTICS

FSH , PROLACTIN

MATURE SECONDARY SEXUAL CHARACTERISTICS

DISTAL GENITAL TRACT OBSTRUCTION,MULLERIAN AGENESIS

FSH , PROLACTIN

HIGH FSH LOW OR NORMAL FSH HIGH PROLACTIN

KARYOTYPE

NORMAL ABNORMAL

• 46, XX GONADAL DYSGENESIS

• PREMATURE OVARIAN FAILURE

• 45,XX OR 46,XY• MOSAIC

GONADAL DYSGENESIS

PITUITARY FUNCTION TESTINGSELLAR X-RAY

NORMAL ABNORMAL

•CONSTITUIONAL DELAY•ISOLATED GONADOTROPIN DEFICIENCY•MALNUTRITION•CHRONIC ILLNESS

• HYPOPITUITARISM• CNS TUMOR

CHECK T4, TSH

NORMAL TSH

HIGH TSH

MRI OR CT

HYPOTHYROIDISM

Thank you…