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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.

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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:

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3 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.

4 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

5 Hypothalamus Pituitary Stalk Pituitary gland PVN SON Chiasma VMN GnRH Satiety center Oxytocin ADH

6 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

7 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

8 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

9 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

10 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

11  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

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13 Primary amenorrhea

14 Cholesterol Acetate LDL-c 4P4P 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

15  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

16 Craniopharyngioma Rathke’s pouch tumor Cystic spaces Squamous epithelium Calcification Enamel-like  GH (Dwarf, obese)  Gn (Delayed puberty)  ADH (DI) ICT Stalk section Optic chiasm

17  Hypergonadotropic hypogonadism:  Unresponsive end organs  Differential diagnosis: Turner’s syndrome Swyer’s syndrome Pure gonadal agenesis (46XX & 46XY) Mixed gonadal dysgenesis Abnormal X chromosome

18 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

19 Turner syndrome Cystic hygroma Fetal hydrops

20  +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

21 Morris syndrome (XY female) Male karyotype Female phenotype Male level of testosterone Complete Receptor failure 5 alpha-reductase defect

22 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

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25 Comparison Mullerian agenesisXY female KaryotypeXXXY Heredity-veXLR Sexual hairFemale distributionHairless TeFemale rangeMale range AnomalyYesRare TumorNo5%

26 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

27 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

28 Comparison ItemPure gonadal agenesis Kallmann’s syndrome KaryotypeXX or XY (Swyer’s)XX FSHHighLow GonadStreaksOvary HumegonNo responseGood AssociationGonadoblastomaAnosmia

29 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.

30 Turner’s syndrome Noonan’s syndrome Karyotype45/XO46/XXp- GonadStreakOvary StigmataYes HeartCoAPS IQNormalLow Comparison Can Turner cases got pregnancy? Yes

31 Primary amenorrhea ChFSHLHE2TePRLPWT Turner’sXO  ==-ve AISXY  =  =-ve KallmannXX  =  -ve

32 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

33 Buccal smear Karyotying Endocrine evaluation –FSH/LH, PRL/TSH –Estrogen (PWT, C.I, E2 assay) –Androgen (Te, DHEAS) Investigation

34 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.


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