48243123 Amenore Primer

AMENOREAPRIMER

A.A.N ANANTASIKA

BATASAN

SPEROFF (2005)I. GADIS USIA 14 TH TANDA SEKS SEKUNDER (-) & BLM MENARKE

II. GADIS USIA 16 TH TANDA SEKS SEKUNDER POS TETAPI BELUM

MENARKE

UMUR

(TH)BUAH DADA

HAID JENIS

14 Ө Ө PRIMER

16 (+) Ө PRIMER

PASKA MENARCHE

3 SIKLUS ӨSEKUNDER

6 BULAN Ө

RATA-RATA UMUR GADIS SAAT MULAI PUBERTAS

-AWAL PERTUMBUHAN BUAH DADA 10,8 1,10

-RAMBUT KEMALUAN 11,0 1,21

-MENARCHE 12,9 1,20

MASHCHAK

GROUP BUAH DADA

UTERUS KETERANGAN

I Ө SENTRAL

PERIFER

II Ө RKH

TFS

III Ө Ө KEL SEKS KROMOSOM

IV EVALUASI SPT AMENORE SEKUNDER

PERTUMBUHAN BUAH DADA MERUPAKAN PETANDA

ADANYA

ESTROGEN

KLASIFIKASI SEKS SEKUNDER TANNER

TANNER STAGINGBREAST PUBIC HAIR

STAGE 1

(PREPUBERTAL)

ELEVATION OF PAPILA ONLY NO PUBIC HAIR

STAGE 2 ELEVATION OF BREAST AND PAPILA AS SMALL MOUND,

AREOLA DIAMETER ENLARGED

MEDIAN AGE:9,8 YRS

SPARSE,LONG,PIGMENTED

HAIRLY CHIEFLY ALONG LABIA

MAJORA,MEDIAN AGE 10,5 YRS

STAGE 3 FURTHER ENLARGEMENT WITHOUT SEPARATION OF BREAST AND AREOLA

MEDIAN AGE 11,2 YRS

DARK,COARSE,CURLED HAIR

SPARSELY SPREAD OVERMONS

MEDIAN AGE 11,4 YRS

STAGE 4 SECONDARY MOUND OF AREOLA AND PAPILA ABOVE THE BREAST

MEDIAN AGE 12,1 YRS

ADULT TIPE HAIR,ABUNDANT

BUT LIMITED TO THE MONS

MEDIAN AGE 12,0 YRS

STAGE 5 RECESSION OF AREOLA

TO CONTOUR OF BREAST

MEDIAN AGE 14,6 YRS

ADULT TYPE SPREAD IN

QUANTITY AND DISTRIBUTION

MEDIAN AGE 13,7 YRS

MASHCHAK

GROUP BUAH DADA

UTERUS KETERANGAN

I Ө SENTRAL

PERIFER

II Ө RKH

TFS



GROUP I(BUAH DADA Ө UTERUS )

PROD ESTROGNEGATIF

PX FSH SERUMTINGGIRENDAH

A. OVARIUM GAGALHIPER - HIPOG

B. HIPOTAL-PITUITARIGAGAL

HIPOG-HIPOG

A. OVARIUM GAGALHIPER-HIPOG

E ↓↓↓

KELAINAN ORGAN(OVARIUM)

KELAINAN SINTESA E (ENZYM)


KEL KROMOSOM

NON ANDROGENIK-45 XO (S. TURNER)-46 ABNORMAL X DELESILENGAN PENDEK/PANJ.-MOSAIK (X/XX,X/XX/XXX,X/ XY) -46 XX/ ATAU 46 XY (MURNI GONADAL DISGENESIS) -46 XX DG DEF 17 HIDROKSILASE

ANDROGENIK **

-45 X/46 XY-45 X/46 X (Yq)-45 X (TESTISCULAR DETERMINAN POSITION)

** MESKIPUN TIDAK DITEMUKAN Y KROM

BILA ADA TANDA-TANDA HIPERANDROGEN

INDIKASI GONADEKTOMI

SINDROMA TURNER

KLINIS KEL ORGAN LAIN AUTO IMUN DISEASES

-PENDEK-WEBBING OF THE NECK-JARAK NIPLE JAUH-UDEMA KAKII & TGN-KUBITUS VALGUS-MULTIPLE PIGMENTED NEVI

-RECCURENT OTITISMEDIA-JANTUNG-GINJAL-TULI-OSTEOPOROSIS-RESIST INSULIN RINGAN

-HASHIMOTO’S THYROIDITIS-ADDISON’S DIS-ALOPECIA-VITILIGO

TERAPI SINDROMA TURNER

PERTUMBUHAN FERTILITAS

CONTINOUS DAILY LOW DOSE ANDROGEN

CESSATION OF LINEAR GROUP

ESTROGEN ON DAYS 1-25 OF EACH MONTHSPROGESTIN ON DAYS 14-25 OF EACH MONTHS

PRESENT: OOCYTE DONATION BY IVF-ET

FUTURE:CRYOPESERVATIONOF FUNCTIONAL OOCYTEOBTAINED IN INFANCY


E ↓↓↓

KELAINAN ORGAN(OVARIUM)

KELAINAN SINTESA E (ENZYM)

17 HYDROXYLASE

AROMATASI

17,20 DESMOLASE

P450scc

STEROIDOGENESISCHOLESTEROL

PREGNENOLON

DHEA

17 OH PREGNENOLONE

CORTICO COST.

DEHYD.TESTOST.

CORTISOL

D O C

TESTOSTERONE

DESOXYCORTISOL

PROGEST.

ANDROST

17 OH PROGEST

ESTRONE ESTRADIOL3 HYDRO

XY STEROID DEHYDRO

GENASE

17 OH STERO

IDDEHYDRO

GENASE

11 HYDROXYLASE

ALDOST.

CORTISON

5 REDUCTASE

21 HYDROXYLASE

11 HSD

CORTISON

17 HYDROXYLASE

DEF.17 HIDROXYLASE

CORTISONE

ACTH ↑

DEFISIENSI 17 HIDROXILASE

1. GENITALIA EKSTERNA WANITA

2. RETENSI NATRIUM DAN HIPOKALEMIA

3. HIPERTENSI

TEST ACTH

DARAH BASAL

60 MENIT

PERIKSA DARAH

COSYNTROPIN

0,25 MG IV INTERVAL

30-60 DTK

8-9 PAGI

(PUASA SEMALAM)

DEF 17 HIDROXYLASE,BILA:

-PROGESTERON ↑↑-17 HIDROKSI PROGESTERON ↑ SDKT/TETAP

BLOOD PRESSURE MEASUREMENT IN DIAGNOSISGROUP I PRIMARY AMENORHEA

SERUM FSH LEVEL

ELEVATED

HIPERGONADOTROPICHIPOGANADISME

BLOOD PRESSURE MEASUREMENT

NORMAL BLOOD PRESSURE

GONADAL DISGENESIS

KARYOTIPE

HIPERTENSION

-17 HIDROX DEF-46 XX

45,X46,X/ ABNORMAL X

MOSAICISMEPURE GONADAL DISGENESIS

45 X/ 46 XY45 X/TESTICULER

DETERMINANT POSITION


PROD ESTROGNEGATIF




HIPOG-HIPOG

CT OR MRI IN DIAGNOSIS OF GROUP I PRIMARY AMENORRHEA

SERUM FSH

LOW/NORMAL

HIPOGONADOTROPICHIPOGONADISM

CT OR MRI SELLA TURSICA

NO LESION LESION

GnRH STIMULATION TEST

NORMAL,FSH,LHRESPONSE

HIPOTHALAMICFAILURE

ABSENTRESPONSE

PITUITARYFAILURE

TEST GnRH

100 G GnRH/HR IM1 MINGGU

DRH BASAL

2X/15 MNT

100 G GnRH IV

BOLUS 30”

3O’ 60’

PX

LH

PX

FSH

KEL HIPOTHALAMUSBILA

-30’ LH ↑↑-60’ FSH ↑↑ PITUITARY BAIK


PROD ESTROGNEGATIF




HIPOG-HIPOG

PENATALAKSANAAN AMENOREA PRIMER GROUP 1

BUAH DADA -, UTERUS +, (SENTRAL/PERIFER)

FSHRENDAH/NORMAL

TINGGI

HYPER-HYPOG

PERIFER (E )

OV. GAGAL

GGN. SINTESA E

TENSI

TEST PROVOKASIACTH

PROGESTERON 17 OH PROGEST SDKT

NAIK

GGN SINTESA EDEF. 17 HYDROGENASE

CORTISONHRT

TENSI N

OV GGL

KARYOTYPING

NON ANDROGENIK ANDROGENIK

XOX/XX/XXX

X/XXXADA KOMP Y /&

TANDA ANDROGEN

GONADEKTOMIHRT

AWAS KEL ORGAN LAIN

AUTOIMUN

GGN PERTBHNSEKS SEKUNDER FERTILITAS

ANDROGEN (TB)

SP. PERTUMBHNOPTIMAL (3 BLN TUMBUH

LAGI)HRT

OOSIT DONORIVF

SENTRAL(PITUITARI- HYPOTAL)

CT SCAN

KEL + KEL -

HIPOTAL +

TEST PROVOKASI

GnRHCC

-

PITUITARI

PROLAKTINOMA

BROMOKRIPTIN BEDAH

LAIN

COMPLETE DIAGNOSTIC EVALUTION OF WOMEN WITH GROUP I PRIMARY AMENORRHEA

SERUM FSHLEVEL

LOW OR NORMAL ELEVATED

HYPERGONADOTROPICHYPOGONADISM

CT OR MRI, PROLAKTINTSH

HYPOGONADOTROPICHYPOGONADISM

BLOOD PRESSURE

NO LESION

HYPERTENSIONNORMAL BLOOD

PRESSURE

LESION

17HYDROXDEFICIENCY

46, XX

GYNADALDYSGENESIS

KARYOTYPINGGnRH STIMULATION TEST

NORMAL FSH, LH

RESPONSE

HYPOTHALAMIC FAILURE

ABSENT

RESPONSE

PITUITARI FAILURE

45,X46,X/ABNORMAL XMOSAICISMPURE GONADAL, 45,X/ 46 XY45,X/45,Xi (Yq)

45,X TESTICULAR

DETERMINANT

POSITION

MASHCHAK

GROUP BUAH DADA

UTERUS KETERANGAN

I Ө SENTRAL

PERIFER

II Ө RKH

TFS



GUP II AMENOREA

(BUAH DADA POS,UTERUS NEG)

RKH TFS

ESTROGPOS

GGANPERTUMB

ORGANREPROD

RKH : MAYER ROKITANSKY KUSTER HAUSER SYNDROME

TFS : TESTISCULAR FEMINIZATION SYNDROME

KLASIFIKASI KELAINAN PERTUMBUHAN DUKTUS MULLER

I. AGENESIS (RKH)II. GANGGUAN FUSI VERTIKAL

A. OBSTRUKSIB. NON OBSTRUKSI

III. GANGGUAN FUSI LATERALA. OBSTRUKSI

B. NON OBSTRUKSI

RKH

DASARNYA GENOTIPE WANITAAGENESIS DUKTUS MULLER

(OVARIUM NORMAL)

KLINIS

•H – P – O BAIK OVULASI POS

•TESTOSTERON “N” WANITA

•GANGGUAN PADA GENITALIA : VAGINA DAN UTERUS

GUP II AMENOREA

(BUAH DADA POS,UTERUS NEG)

RKH TFS

ESTROGPOS

GGANPERTUMB

ORGANREPROD

RKH : MAYER ROKITANSKY KUSTER HAUSER SYNDROME

TFS : TESTISCULAR FEMINIZATION SYNDROME

NORMAL DEVELOPMENT OF INTERNAL AND EXTERNAL GENITAL

UNDIFFERENTIATED GONAD

KARYOTIPEXYXX OVARIAN

DEVELOPMENT

TESTICULAR

DEVELOPMENT

MISTESTOST. AND DEHYDROTEST

WOLFIAN DUCT REGRESION

+

MULLERIAN DEVELOPMENT OF OVIDUCTS AND UTERUS

+

FEMALE EXTERNAL GENITALT DHT

WOLFIAN OV.

DEV.

DEV. OF MALE EXT

GENITAL

SEMINAL VES. AND PROSTAT

LAB SCROTAL FUSION+ PHALLIC DEV.

MULLERIAN DUCT.

REGRESSION

XY

NORMAL TIDAK NORMAL(GGN PERTUMBUHAN)

TFS

GENOTIPE: LAKIPENOTPE: WANITA

PERBEDAAN RKH DAN TFSPEMERIKSAAN RKH TFS

KARYOTIPING 46 XX 46 XY

HEREDITER ? MATERNAL X LINKED

RECESSIVE 25% ANAK

TERKENA 25% CARIER

RAMBUT SEKS “N” WANITA NEG/SEDIKIT

TESTOSTERON “N” WANITA “N” / ↑ WANITA

KELAINAN LAIN SERING JARANG

KEGANASAN GONAD NORMAL 5% KEMUNGKINAN GANAS

DIFFERENTATION OF THE CONGENITAL ABSENCE OF THE UTERUS FROM THE ANDROGEN INSENSITIVITY SYNDROME

SERUM TESTOSTERONE & OBSERVATION OF PUBIC AND

AXILARY HAIR

NORMAL MALE TESTOSLEVEL AND ABSENT PUBIC

AND AXILARY HAIR

NORMAL FEMALE TESTOSTERON LEVEL AND NORMAL PUBLIC

AND AXILARY HAIR

ANDROGEN INSENSITIVITY(TESTICULAR FEMINIZATION)CONGENITAL ABSENT OF UTERUS

CONFIRM WITH KARYOTIPECONFIRM OVULATION WITH A BBT OR WEEKLY SERUM PROGESTERONE X 4

TERAPI AMENOREA GRUP IIBUAH DADA (+) UTERUS (-)

RKH TFS

BEDAH : VAGINA TIRUAN

GONADEKTOMI(PASCA PUBERTAS)

HRT

PENATALAKSANAAN AMENOREA PRIMER GRUP II, BUAH DADA +, UTERUS -, (RKH, TFS)

TESTOSTERON

TINGGI/ N, LAKI2

RENDAH/ N, WANITA

RKH

TANDA OVULASI KLINIS/ PMS

BBT

USG

VAGINA TIRUAN

AWAS KEL. BAWAAN LAIN

TFS

-+

GONADEKTOMI(PASCA PUBERTAS ) HRT

MASHCHAK

GROUP BUAH DADA

UTERUS KETERANGAN

I Ө SENTRAL

PERIFER

II Ө RKH

TFS



EVALUATION OF WOMEN WITH GROUP III

PRIMARY AMENORRHEA

KARYOTIPE (46, XY)

ENZYMEDEFICIENCY AGONADISME

GROUP III AMENORE PRIMER

(BUAH DADA & UTERUS (-) )

A. GANGGUAN ENZIM

DEFISIENSI DARI:

- 17, 20 – DESMOLASE *

- 17 - HIDROKSILASE *

B. TESTICULAR AGONADISM

* KARYOTIPING XY GONADEKTOMI

CHOLESTEROL

5 ANDROSTENEDIONE

17 HYDROXYPROGESTERONE

PROGEST

517 ANDROSTENEDIOL

517 HYDRPREGNOL

5 DEHYDEPIANDROS

TESTOSTERONE

ESTRONE

DEOXYCORTISOL

DEOXYCORTICOST

ESTRADIOL

CORTISOL

CORTICOST18 hydroksiCORTICOST

5 PRENENOLONE

ALDOS

SEX STERO

ID

MIN

ERA

LO C

OR

TICO

ST

GLU

CO

CO

RTIC

OST

2 HYDROXYLASE

3 HYDROXY DEHYDROGENASE

17 OH STEROID OXYREDUCTASE

17,20 DESMOLASE

17 HYDROXYLASE

20.21 DESMOLASE18 OXYDASE .

18 HYDROXYLASE11 HYDROXYLASE

GROUP III AMENORE PRIMER

(BUAH DADA & UTERUS (-) )

A. GANGGUAN ENZIM

DEFISIENSI DARI:

- 17, 20 – DESMOLASE *

- 17 - HIDROKSILASE *

B. TESTICULAR AGONADISM

* KARYOTIPING XY GONADEKTOMI

AMENORE PRIMER GRUP III

AGONADISM

TEORITIS

JAR. TESTISKULAR ADA PADA AWAL PERTUMBUHAN EMBRIO

SISTEM DUCTUS MULLER TERTEKAN

TAPI,SETELAH ITU JAR. TESTISKULAR MENGHILANG

VANISHING TESTESSYNDROME

THERAPI AMENORE PRIMER GRUP III

(BUAH DADA & UTERUS NEGATIF)

-GONADEKTOMI-HRT

GRUP IV AMENOREA PRIMER

(BUAH DADA & UTERUS +)

EVALUASI

SAMA DENGAN AMENORE SEKUNDER

Documents

48243123 Amenore Primer