Presentation on theme: "Definition Failure to initiate spontaneous menses by the age of 16 or evidence of pubertal onset by age of 14. It is a rare condition seen in less than."— Presentation transcript:
Definition Failure to initiate spontaneous menses by the age of 16 or evidence of pubertal onset by age of 14. It is a rare condition seen in less than 0.1% of the general population.
Puberty is a period of transition between childhood life and adult womanhood life during which sexual maturation occurs The hypothalamus is initiator of these pubertal changes in the following order adrenarche, gonadarche and menarche. Introduction
Hypothalamus Pituitary Stalk Pituitary gland PVN SON Chiasma VMN GnRH Satiety center Oxytocin ADH
U-shaped LH curve High opioid High melatonin Low leptin This curve is present even in agonadic child The drop of opioid and melatonin, or rise of leptin allows the release of GnRH Neonate Child Adult Exercise Anorexia Post-partum Reversal
Two independent events of puberty AdrenarcheGonadarche StimulusCASHGnRH TimingPrecedes growth spurt Follows growth spurt MediatorDHEAE2 ManifestationPubic hair Axillary hair Growth spurt Menarche DiseaseNot in Addison’sNot in Turner’s
Tanner staging of puberty StageAgeBreastsPubic hairE2 Pg/ml I7NippleNil< 10 II10Breast budSparse labial10-20 III11Smooth contourDark curled hair20-40 IV13Secondary moundAdult type hair40-60 V14Mature breastAdult distribution> 60 NB: Menarche coincides with stage IV
Second growth spurt BoysGirls Increments inches/years Age in years It is earlier in females It is higher in males It is related to GH, IGF-1 Gonadal steroids Initiates it Terminates it
For proper menses to occur there should be a nice integration between the hypothalamus, pituitary, ovary and responsive uterus as well as a patent effluent genital tract. We have four levels; Level 1 (Uterus and outflow tract), Level II (Ovary), Level III (Pituitary), Level IV (Hypothalamus) Leveling of amenorrhea
Based on presence or absence of 2ry sexual characteristics: 1.No 2ry sexual characteristics 2.Breast development, but no pubic and axillary hair 3.Normal 2ry sexual characteristics 4.Incompletely developed 2ry sexual characteristics
Cholesterol Acetate LDL-c 4P4P 3HSD 5 P 17OH 4 P 3HSD 17 OH 5 P AD 3HSD DHEA P450 SCC 17OHase Desmolase Te P450arom E1 E2 17HSD Corticosterone Aldosterone 11OHase 21OHase 11 desoxy cortisol or compound S Cortisol 11OHase 11HSD Cortisone DOC
Hypogonadotropic hypogonadism: Kallmann’s syndrome: 1ry amenorrhea (lack GnRH)+ Anosmia Craniopharyngioma: either by damaging the hypothalamus or interferes with the transport o hormones If GnRH stimulation test +ve>>> hypothalamus Imaging needed for tumors
Hypergonadotropic hypogonadism: Unresponsive end organs Differential diagnosis: Turner’s syndrome Swyer’s syndrome Pure gonadal agenesis (46XX & 46XY) Mixed gonadal dysgenesis Abnormal X chromosome
Turner syndrome Turner’s stigmata Sexual infantilism Short stature Webbed neck Spaced nipples Cubitus valgus Shield chest Pigmented nevi Coarctation of aorta Renal anomaly Streak gonads Turner’s Karyotype XO XO/XX XXp- XXr
Turner syndrome Cystic hygroma Fetal hydrops
+ve gonadal secretion, no manifestations of androgen secretion Reflects the absence of androgen receptors “complete androgen insensitivity syndrome” (testicular feminization) Genotype : 46XY male intra-abdominal testes Phenotype :female normal contour, no uterus, vaginal dimple….. Due to mullerian-inhibiting substance Gonadectomy,,,, high malignancy rate Raise as female and create new vagina Psychological counseling Islamic view regarding inheritance
Morris syndrome (XY female) Male karyotype Female phenotype Male level of testosterone Complete Receptor failure 5 alpha-reductase defect
With no uterus Mullerian agenesis (Mayer-Rokitansky) XY female (Morris’ ) With a uterus Gynaetresia –Imperforate hymen –T.S vaginal septum Hypoplasia uteri Genital TB Systemic illness Constitutional delay Normal gonadal secretion Vast majority 46XX, amenorrhea due to anatomical abnormalities In case of absent vagina and/or uterus: Creation of new vagina is the answer (dilators, vaginoplasty) With yterine/vaginal abnormalities always think of renal abnormalities
Comparison Mullerian agenesisXY female KaryotypeXXXY Heredity-veXLR Sexual hairFemale distributionHairless TeFemale rangeMale range AnomalyYesRare TumorNo5%
Obese Frohlich’s syndrome Laurance-Moon-Biedl syndrome Hand-Schuller-Christian disease Prader-Willi syndrome Craniopharyngioma Suprasellar-germinoma Thin Exercise related –High B-End –High catechol estrogen Anorexia nervosa Weight loss Systemic illness –Tuberculosis –SCD –Thalassemia Primary amenorrhea with sexual infantilism
Tall Pure gonadal agenesis Swyer’s syndrome Kallmann’s syndrome 17 OHase deficiency desmolase deficiency Short Pituitary dwarf –Sexual –Asexual (Laron) Turner’s syndrome Hypothyroidism Constitutional delay of puberty Primary amenorrhea with sexual infantilism
Weight loss amenorrhea SimpleAnorexia nervosa AgeAnyYoung PsychicNoYes Weight loss Added features 20% of IBW No More Dehydration HormonesNormal GH, rT3, Carotene, DA PRL, LH, T3, E2, ADH GnRH therapyUsefulNot ComplicationNoPossible As the fault extends to the pituitary in anorexia, GnRH pulse therapy is not effective in restoring menstruation.
Evaluation of primary amenorrhea History –Personal history –Family history –Past history Physical examination –Secondary sex characteristics –Virile manifestations –Weight, height, span Sonographic assessment Laparoscopy Gonadal biopsy
Management of primary amenorrhea The aim of treatment is to attain maximum physiologic function of which an individual can attain. No treatment until the diagnosis is solid. The majority will be able to achieve satisfactory sexual life but the prospect of fertility may be poor. HRT may be needed for life.