BATASAN

SPEROFF ( 1994 )
I. GADIS USIA 14 TH TANDA SEKS
SEKUNDER NEG. & BLM MENARKE
II. GADIS USIA 16 TH TANDA SEKS
SEKUNDER POS. TETAPI BELUM MENARKE

PEMBAGIAN
BRENNER PAUL F. ( 1999 )
KATEGORI PENOTIP AMENORE PRIMER
GRUP

BUAH DADA

UTERUS

I.

TIDAK

ADA

II.

ADA

TIDAK

III.

TIDAK

TIDAK

IV.

ADA

ADA

MISHELL DANIEL R. Jr , ATLAS OF CLINICAL GYNEKOLOGY.

KLASIFIKASI SEKS SEKUNDER : TANNER

TANNER STAGING
BREAST

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 YEARS

SPARSE, LONG, PIGMENTED

HAIR CHIEFLY ALONG LABIA
MAJORA. MEDIAN AGE 10,5 YRS

STAGE 3

FURTHER ENLARGEMENT
WITHOUT SEPARATION OF
BREAST AND AREOLA.
MEDIAN AGE: 11,2 YEARS

DARK, COARSE, CURLED HAIR

SPARSELY SPREAD OVER MONS
MEDIAN AGE 11,4 YEARS

SECONDARY MOUND OF AREOLA

AND PAPILA ABOVE THE BREAST
MEDIAN AGE: 12,1 YEARS

ADULT TYPE HAIR, ABUNDANT

BUT LIMITED TO THE MONS.
MEDIAN AGE: 12,0 YEARS

RECESSION OF AREOLA
TO CONTOUR OF BREAST
MEDIAN AGE : 14,6 YEARS

ADULT TYPE SPREAD IN

QUANTITY AND DISTRIBUTION.
MEDIAN AGE : 13,7 YEARS

STAGE 4

STAGE 5

GRUP I
( BUAH DADA NEG, UTERUS POS. )
PROD. ESTROG.
NEG.

A. OVARIUM GAGAL
HIPER - HIPOG

TINGGI

B. HIPOTAL. PITUITARY
GAGAL
HIPOG - HIPOG

PX. FSH SERUM

RENDAH

A.OVARIUM GAGAL
HIPER - HIPOG
KEL. KROMOSOM
NON ANDROGENIK

ANDROGENIK

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

-45X/ 46 XY
-45X/ 46X ( Yq )
-45X (TESTICULAR
DETERMINANT POSITION )

SINDROMA TURNER
KLINIS
-PENDEK
-WEBBING OF THE NECK
-JARAK NIPLE JAUH
-UDEMA KAKI & TANGAN
-KUBITUS VALGUS
-MULTIPLE PIGMENTED
NEVI
-RECURRENT OTITIS MEDIA
-KEL. JANTUNG, GINJAL
DSB

DEF. 17 - HIDROXYLASE
1. GENITALIA EXTERNA WANITA
2. RETENSI NATRIUM
HIPOKALEMI
HIPERTENSI

TX.
- HRT
- CORTISONE

TEST ACTH
DARAH BASAL

60 MENIT
PERIKSA DARAH

COSYNTROPIN
0, 25MG IV INTERVAL
30 60 DETIK
8 9 PAGI
( PUASA SEMALAM )
DEF. 17 - HIDROKSILASE BILA :
PROGESTERON
17 - HIDROKSI PROGESTERON

SEDIKIT / TETAP.

BLOOD PRESSURE MEASUREMENT IN DIAGNOSIS

GROUP I PRIMARY AMENORHEA

SERUM FSH LEVEL

ELEVATED

HYPERGONADOTROPIC
HYPOGONADISME
BLOOD PRESSURE MEASUREMENT
NORMAL BLOOD PRESURE

GONADAL
DYSGENESIS

KARYOTYPE

HYPERTENSION
17- HYDROXYLASE
DEFICIENCY 46, XX

45,X
46,X/ ABNORMAL X
MOSAICISM
PURE GONADAL DYSGENESIS
45,X/ 46, XY
45,X / 45, X ( Yq )
45,X / TESTICULAR
DETERMINANT POSITION

CT OR MRI IN DIAGNOSIS OF GROUP I

PRIMARY AMENORRHEA
SERUM FSH
LOW / NORMAL

HYPOGONADOTROPIC
HYPOGONADISM

CT OR MRI SELLA TURCICA

LESION

NO LESION

GnRH STIMULATION TEST

NORMAL, FSH, LH
RESPONSE

HYPOTHALAMIC
FAILURE

ABSENT
RESPONSE
PITUITARY
FAILURE

TEST GnRH
100 g GnRH/ HR IM
1 MINGGU

100g GnRH IV
BOLUS 30
30
DRH
BASAL
2X TIAP 15

-30 LH

KEL.
HIPOTALAMUS BILA 60 FSH

PX
LH

60
PX
FSH

PITUITARY
BAIK

COMPLETE DIAGNOSTIC EVALUATION

OF WOMEN WITH GROUP I PRIMARY AMENORRHEA
LOW OR NORMAL
HYPOGONADROTROPIC
HYPOGONADISM
CT OR MRI, PROLACTIN, TSH

NO LESION

LESION

GnRH STIMULATION TEST

ELEVATED

SERUM FSH
LEVEL

HYPERGONADOTROPIC
HYPOGONADISM
BLOOD PRESSURE

NORMAL BLD
PRESSURE

HYPERTENSION

GYNADAL
DYSGENESIS

17 -HYDROX.
DEFICIENCY 46,XX

KARYOTIPE

NORMAL FSH, LH
RESPONSE

ABSENT
RESPON

HYPOTHALAMIC
FAILURE

PITUITARY
FAILURE

45,X
46,X/ ABNORMAL X
MOSAICISM
PURE GONADAL DYSG.
45,X/ 46 XY
45, X/ 45, Xi ( Yq )

45,X TESTICULAR
DETERMINANT
POSITION

GRUP II AMENORE PRIMER

( BUAH DADA POS., UTERUS NEG )

RKH

ESTROG.
POS.
GGAN
PERTUMB.
ORGAN
REPROD.

TFS

RKH = MAYER ROKITANSKY KUSTER HAUSER SYNDROME

TFS = TESTICULAR FEMINIZATION SYNDROME

SKEMA PERTUMBUHAN DUKTUS MULLER

KLASIFIKASI KELAINAN
PERTUMBUHAN DUKTUS MULLER
I. AGENESIS ( RKH )
II. GANGGUAN FUSI VERTIKAL
A. OBSTRUKSI
B. NON OBSTRUKSI
III. GANGGUAN FUSI LATERAL
A. OBSTRUKSI
B. NON OBSTRUKSI

CLASSIFICATION OF MULLERIAN ANOMALIES

HIPOPLASIA/
AGENESIS

VAGINAL

FUNDAL

UNICORNUATE
COMMUNICATING

NO CAVITIY

DIDELPHYS

SERVICAL

TUBAL

COMBINED

NON COMMUNICATING

NO HORN

CLASSIFICATION OF MULLERIAN ANOMALIES

BICORNUATE

SEPTATE

ARCUATE

DES RELATED

RKH
DASARNYA GENOTIPE WANITA
AGENESIS DUKTUS MULER
( OVARIUM NORMAL )
KLINIS

H P O BAIK OVULASI POS.

TESTOSTERON N WANITA
GANGGUAN PADA GENITALIA :
VAGINA & UTERUS

NORMAL DEVELOPMENT OF INTERNAL

AND EXTERNAL GENITALIA
UNDIFFERENTIATED GONAD
XY
XX OVARIAN
DEVELOPMENT

KARYOTIPE
TESTICULAR
DEVELPMENT
MIS

WOLFIAN DUCT REGRESSION

+
MULLERIAN DEVELOPMENT
OF OVIDUCTS AND UTERUS
+
FEMALE EXTERNAL GENITALIA

TESTOST. AND
DEHYDROTESTOST.
T

MULLERIAN
DUCT
REGRESSION

DHT

WOLFIAN
DUCT
DEV.

DEV. OF
MALE EXT
GENITAL

SEMINAL VES.
AND PROSTAT

LAB. SCROTAL
FUSION +
PHALLIC
DEV.

PERBEDAAN RKH & TFS

PEMERIKSAAN

RKH

TFS

KARYOTIPING

46 XX

46 XY

HEREDITER

RAMBUT SEKS

N WANITA

NEG. / SEDIKIT

TESTOSTERON

N WANITA

N /

KELAINAN LAIN

SERING *

KEGANASAN GONAD

NORMAL

SPEROFF 1994
* 1/3 PEND. ADA KEL. URINARIUS ECTOPIC KIDNEY RENAL AGENESIS
HORSE SHOE KIDNEY DSB.
* 12 % KELAINAN TULANG ( TULANG BELAKANG )

MATERNAL X LINKED
RECESSIVE 25% ANAK
TERKENA 25% CARIER

PRIA

JARANG
5% KEMUNGKINAN
GANAS

DIFFERENTIATION OF THE CONGENITAL ABSENCE OF

THE UTERUS FROM THE ANDROGEN INSENSITIVITY SYNDROME

SERUM TESTOSTERONE &

OBSERVATION OF PUBIC AND AXILARY HAIR

NORMAL FEMALE TESTOSTERON

LEVEL AND NORMAL PUBIC
AND AXILARY HAIR

CONGENITAL ABSENCE
OF UTERUS

CONFIRM OVULATION
WITH A BBT OR WEEKLY
SERUM PROGESTERONE X 4

NORMAL MALE TESTOSTERONE

LEVEL AND ABSENT PUBIC
AND AXILARY HAIR

ANDROGEN INSENSITIVITY
( TESTICULAR FEMINIZATION )

CONFIRM WITH
KARYOTIPE

GRUP III AMENORE PRIMER

( BUAH DADA & UTERUS NEG. )
A.GANGGUAN ENZIM :
DEFISIENSI DARI:
- 17.20 - DESMOLASE*
- 17 HYDROKSILASE*
B. TESTICULAR AGONADISM.

* KARYOTIPING XY GONADEKTOMY

EVALUATION OF WOMEN WITH GROUP III

PRIMARY AMENORRHEA
KARYOTYPE ( 46, XY)

ENZYME
DEFICIENCY

AGONADISME

GRUP IV AMENORE PRIMER

( BUAH DADA & UTERUS POS. )
EVALUASI

SAMA DENGAN AMENORE

SEKUNDER

GARIS BESAR EVALUASI AMENORE PRIMER

SEKSI FERTILITAS & ENDOK. REPROD. LAB
SMF OBGYN. FK UNAIR RSUD DR SOETOMO
SURABAYA
I. BD-, UT +

II. BD +, UT -

FSH
TINGGI

TESTOST.
RENDAH

KEL. OV. FOTO SELLA

KARYO
TIPING

KEL
+

Y POS.
PIT. H.TAL
GONADEKT.

N WNT
RKH*

KARYOTIPING

N PRIA
TFS

VAGINO
PLASTI

III. BD & UT - IV. BD & UT +

KARYO
TIPING

GONADEKTOMI
& HRT

-TX G. TROPIN
*BILA ADA TANDA
-HRT
HRT
KLINIS ANDROGEN
CORTISONE
PX KARYOTIPING
( BILA TENSI NAIK )

XY

GONADEKTOMI
& HRT

LIHAT.
AMENORE
SEKUNDER