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AMENORRHEA Paul Beck, MD, FACOG, FACS Incidence of Primary Amenorrhea Less than .1% Puberty Breast: Pubic Hair: Menarche 10.8 +/- 1.10 yrs. 11.0 +/- 1.21 yrs. 12.9 +/- 1.2 yrs. Onset of Puberty and Menstruation Ratio of fat to both total body weight and lean body weight Moderate obesity (20 – 30 % above ideal body weight) = earlier menarch Malnutrition (anorexia nervosa, starvation) = delay Prepubertal strenuous exercise (less total body fat) = delay e.g. ballet dancers, swimmers, runners Diagnostic Evaluation by Compartments I Outflow Tract (uterus – vagina) II Ovary III Anterior Pituitary IV CNS – Hypothalamus (environment and psyche) Evaluation History/Physical Psychiatric, family history-genetic abnormalities, nutritional status, growth/development Secondary sexual characteristics Presence of breasts – normal reproductive tract (uterus, vagina) Evaluation Categories Breast Absent – Uterus Present Breast Present – Uterus Present Breast Present – Uterus Absent Breast Absent – Uterus Absent Initial Tests for Amenorrhea Progesterone challenge TSH Prolactin TSH elevated – hypothyroid Prolactin elevated (MRI – 100 ng/ml) Progesterone Challenge Positive withdrawal bleed Normal prolactin Normal TSH Diagnosis = annovulation Treatment: monthly progesterone/O.C. Progesterone Negative Withdrawal FSH/LH FSH/LH normal – estrogen/progesterone cycle If negative = end organ defect If FSH/LH high = ovarian failure Estrogen – positive withdrawal, FSH normal or low, MRI sella = no path Diagnosis: hypothalamic amenorrhea Chromosome Evaluation for Ovarian Failure If the patient is under age 30 – karyotype Y chromosome/excision of gonadal area Problem – gonadal tumor – malignant 30% do not develop virilization, therefore even normal appearing female needs karyotype to exclude Y After age 30 = premature menopause Selected Blood Test for Autoimmune Disease Calcium, phosphorus Fasting blood sugar A.M. cortisol Free T4 – TSH Thyroid antibodies CBC – ESR – CRP Total protein A/G ratio Rheumatoid factor Antinuclear antibody Specific Disorders I Outflow - imperforate hymen, ashermans mullerian agenesis, androgen insensitivity syndrome II Ovary - can be primary or secondary amenorrhea 40% of primary amenorrhea have gonadal streaks Of the 40%, 50% = 45,X 25% = mosaics 25% = 46 XX Secondary amenorrhea patients have many karyotypes Specific Disorders (continued) Turner syndrome Gonadal dysgenesis Gonadal agenesis Savage syndrome Premature ovarian failure Radiation therapy Alkylating agents Compartment III Anterior pituitary disorders Tumors – large bitemperal hemianopsia Small tumors – visual defects- rare Craniopharyngioma – calcification x-ray may produce blurring of vision Acromegaly Cushings Pituitary prolactin adenomas (micro/macro) Sheehan’s syndrome Compartment IV CNS disorders Hypothalamic amenorrhea – problem is a GNRH pulsatile secretion Anorexia/Bulemia/weight loss – 25% (onset – 10 – 30 years) Exercise Etiology of 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.) Mullerianagenesis Hypothalamic, pituitary, ovarian pt uterine etiology