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S U T R I S N O Dr.

SpOG
DIVISION OF REPRODUCTIVE ENDOCRINOLOGY AND INFERTILITY DEPARTMENT OF OBSTETRIC AND GYNECOLOGY BRAWIJAYA UNIVERSITY FACULTY OF MEDICINE SAIFUL ANWAR GENERAL HOSPITAL MALANG

BATASAN
BRENNER :
I. Haid Spontan 16,5 Th. II. Seks Sekunder (Buah Dada): 14 Th. II. Seks Sekunder Tanpa diikuti haid dalam 2 Th.
MALFUNGSI AKSIS REPRODUKSI

HAID USIA 14 TH. HAID USIA 16 TH.

SEKS SEKUNDER SEKS SEKUNDER

HORMONAL CONTROL OF OVARIAN FUNCTIONS

UMUR RERATA PUBERTAS


KEJADIAN AWAL PERTUMBUHAN : BUAH DADA 10,8 + 1,10 UMUR
(Tahun)

( DEWASA )
RAMBUT PUBIS MENARCH
(FRISCH & REVELLE)

14,0
11,0 + 1,21 12,9 + 1,20

PEMBAGIAN
BRENNER PAUL F. ( 1999 ) KATEGORI PENOTIP AMENORE PRIMER
GRUP BUAH DADA UTERUS ADA

I.
II. III. IV.

TIDAK
ADA TIDAK ADA

TIDAK
TIDAK ADA

MISHELL DANIEL R. Jr , ATLAS OF CLINICAL GYNEKOLOGY. APPLETON & LANGE SINGAPORE 1999

KLASIFIKASI SEKS SEKUNDER : TANNER

1. Prepubertal

2. Breast Bad

1. Prepubertal

2. Presexual Hair

3. Breast Elevation

4. Aneolar Mound

3. Sexual Hair

4. Mid-exculc. hair

5. Adult Comp.

5. Female Esculc. hair

TANNER STAGING
BREAST
STAGE 1 ( PREPUBERTAL )
ELEVATION OF PAPILA ONLY ELEVATION OF BREAST AND PAPILA AS SMALL MOUND, AREOLA DIAMETER ENLARGED MEDIAN AGE: 9,8 YEARS FURTHER ENLARGEMENT WITHOUT SEPARATION OF BREAST AND AREOLA. MEDIAN AGE: 11,2 YEARS SECONDARY MOUND OF AREOLA AND PAPILA ABOVE THE BREAST MEDIAN AGE: 12,1 YEARS

PUBIC HAIR
NO PUBIC HAIR SPARSE, LONG, PIGMENTED HAIR CHIEFLY ALONG LABIA MAJORA. MEDIAN AGE 10,5 YRS

STAGE 2

STAGE 3

DARK, COARSE, CURLED HAIR SPARSELY SPREAD OVER MONS MEDIAN AGE 11,4 YEARS
ADULT TYPE HAIR, ABUNDANT BUT LIMITED TO THE MONS. MEDIAN AGE: 12,0 YEARS

STAGE 4

STAGE 5

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

ADULT TYPE SPREAD IN QUANTITY AND DISTRIBUTION. MEDIAN AGE : 13,7 YEARS

GRUP I ( BUAH DADA , UTERUS )


PROD. ESTROG.

A. OVARIUM GAGAL HIPER - HIPOG

B. HIPOTAL. PITUITARY GAGAL HIPOG - HIPOG

TINGGI

PX. FSH SERUM

RENDAH

A. OVARIUM GAGAL HIPER - HIPOG


KEL. KROMOSOM 30% NON 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

ANDROGENIK
- 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

PENANGANAN SINDROMA TURNER


TUJUAN :
MAKSIMALKAN TINGGI BADAN PERTUMBUHAN BUAH DADA MENCEGAH OSTEOPOROSIS

TERAPI SULIH HORMON

CHOLESTEROL CHOLESTEROL SIDE CHAIN CLEAVAGE ENZYME 21 - HYDROXYLASE 11 HYDROXYLASE PREGNENOLON PROGEST. 3HYDROXYSTEROID DEHYDROGENASE DOC CORTICOST.

17 - HYDROXYLASE
17- OH PREGNENOLONE 17, 20 DESMOLASE DHEA

ALDOST. CORTISOL

17 OH PROGEST

DO CORTISOL

17- OH- STEROID DEHYDROGENASE

REDUCTASE 5

ANDROST.

TESTO STERON

DEHYD. TESTOST.

AROMATASE
ESTRONE

ESTRADIOL

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 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

GONADAL DYSGENESIS

KARYOTYPE

CT OR MRI IN DIAGNOSIS OF GROUP I PRIMARY AMENORRHEA


SERUM FSH LOW / NORMAL HYPOGONADOTROPIC HYPOGONADISM CT OR MRI SELLA TURCICA NO LESION GnRH STIMULATION TEST NORMAL, FSH, LH RESPONSE HYPOTHALAMIC FAILURE LESION

ABSENT RESPONSE
PITUITARY FAILURE

TEST GnRH
100 g GnRH/ HR IM 1 MINGGU 100g GnRH IV BOLUS 30 30 60 PX FSH

DRH BASAL 2X TIAP 15

PX LH

KEL. HIPOTALAMUS

-30 LH

BILA -60 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 ELEVATED

SERUM FSH LEVEL

HYPERGONADOTROPIC HYPOGONADISM

BLOOD PRESSURE
NORMAL BLD PRESSURE GYNADAL DYSGENESIS KARYOTIPE

LESION

HYPERTENSION
17 -HYDROX. DEFICIENCY 46,XX

GnRH STIMULATION TEST NORMAL FSH, LH RESPONSE HYPOTHALAMIC FAILURE

ABSENT RESPON
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

NO

YES

GRUP II AMENORE PRIMER ( BUAH DADA POS., UTERUS NEG )


ESTROG. POS. GGAN PERTUMB. ORGAN REPROD.

RKH

TFS

RKH = MAYER ROKITANSKY KUSTER HAUSER SYNDROME TFS = TESTICULAR FEMINIZATION SYNDROME

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 WOLFIAN DUCT DEV. DHT DEV. OF MALE EXT GENITAL

MULLERIAN DUCT REGRESSION

SEMINAL VES. AND PROSTAT

LAB. SCROTAL FUSION + PHALLIC DEV.

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

H P O BAIK OVULASI POS. TESTOSTERON N WANITA GANGGUAN PADA GENITALIA : VAGINA & UTERUS

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

KLASIFIKASI MULLERIAN ANOMALIES


CLASSI FICATION ANOMALY CLASSI FICATION ANOMALY Bicornate a. Complete (Division down to internal os) b. Partial

CLASS I

Segmental mullerian Agenesis / Hypoplasia a. Vaginal b. Cervical c. Fundal d. Tubal e. Combined anomalies

CLASS IV

CLASS V

CLASS II

Unicornate a. Communicating b. Noncommunicating c. No Cavity d. No Horn


Didelphic

Septate a. Complete (Septum to Internal os)


Arcuate Drug-Related (DES)

CLASS VI CLASS VII

CLASS III

PERBEDAAN RKH & TFS


PEMERIKSAAN KARYOTIPING

RKH
46 XX

TFS
46 XY
MATERNAL X LINKED RECESSIVE 25% ANAK TERKENA 25% CARIER

HEREDITER

?
N WANITA N WANITA SERING * NORMAL

RAMBUT SEKS TESTOSTERON KELAINAN LAIN KEGANASAN GONAD

NEG. / SEDIKIT N / JARANG 5% KEMUNGKINAN GANAS PRIA

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

ANDROGEN INSENTIVITY SYNDROMES


MATERNAL X LINKED RECESSIVE GEN ANDROGEN INTRA CELLULAR RECEPTOR INDUKSI WOLFFIAN DUCT

AMH

Incomplete Testicular Feminization Reifenstein Syndrome Infertile Male

Complete Testicular Feminization

Female
Phenotypic Spectrum

Male

GONADECTOMY DIKERJAKAN PASCA PUBERTAS

PASIEN DENGAN ANDROGEN INSENSITIVITY SYNDROME

DIFFERENTIATION OF THE CONGENITAL ABSENCE OF THE UTERUS FROM THE ANDROGEN INSENSITIVITY SYNDROME
SERUM TESTOSTERONE & OBSERVATION OF PUBIC AND AXILARY HAIR
NORMAL MALE TESTOSTERONE LEVEL AND ABSENT PUBIC AND AXILARY HAIR

NORMAL FEMALE TESTOSTERON LEVEL AND NORMAL PUBIC AND AXILARY HAIR

CONGENITAL ABSENCE OF UTERUS

ANDROGEN INSENSITIVITY ( TESTICULAR FEMINIZATION )

CONFIRM OVULATION WITH A BBT OR WEEKLY SERUM PROGESTERONE X 4

CONFIRM WITH KARYOTIPE

GRUP III AMENORE PRIMER ( BUAH DADA & UTERUS )

A.GANGGUAN ENZIM :
DEFISIENSI DARI:

- 17.20 - DESMOLASE*
- 17 HYDROKSILASE*

B. TESTICULAR AGONADISM.
* KARYOTIPING XY GONADEKTOMY

CHOLESTEROL
20,22- DESMOLASE 2 - HYDROXYLASE 18 -HYDROXYLASE 3- HYDROXYST. DEHIDROGENASE 11 -HYDROXYLASE
MINERALOCORTOCOST.

18- OXYDASE

5- PREGNENOLONE

PROGEST.

DOEXYCORTICOST.

CORTICOST.

18- HYDROXYCORTICOST.
GLUCOCORTICOST.

ALDOST.

17 HYDROXYLASE

5-17HYD PREGNOL.
17, 20 DESMOLASE

17 - HYDROXY PROGESTERONE

DEOXYCORTISOL

CORTISOL

5-DEHYD. EPIANDROS.
17- OH STEROID OXYREDUCTASE

5 -ANDRO STENEDIONE

ESTRONE

SEX STEROIDS

5- ANDRO STENEDIOL

TESTOSTERONE

ESTRADIOL

EVALUATION OF WOMEN WITH GROUP III PRIMARY AMENORRHEA

KARYOTYPE ( 46, XY)

ENZYME DEFICIENCY

AGONADISME

AMENORE PRIMER III


( BUAH DADA UTERUS )

GONADECTOMY ( KOMPONEN Y) CORTISONE (Def. 17 Hydroxylase) TSH

GRUP IV AMENORE PRIMER ( BUAH DADA & UTERUS )


EVALUASI

SAMA DENGAN AMENORE SEKUNDER

AMENORE PRIMER TIPE IV


TSH & PRL TEST PROGEST

TUNGGU 2-7 HARI PERDARAHAN (+) ANOVULASI DISFS.OVULASI

TDK ADA HAMIL, KELAINAN BAWAAN HIRSUTISME, GALAKTORE

PERDARAHAN (-)

E + P SEQUENTIAL
PERDARAHAN (+)
2 MINGGU

PERDARAHAN (-) KEL.UTERUS TINGGI 2 MG BILA HAID (-)

PX.GONADOTROPIN

RENDAH
KERUSAKAN (-)

NORMAL
FOTO SELLA / Tes GnRH / Tes CC KERUSAKAN (+) PITUITARI

HIPOTALAMUS

KEGAGALAN OVARIUM

GARIS BESAR EVALUASI AMENORE PRIMER


I. BD-, UT +
FSH
TINGGI KEL. OV. KARYO TIPING RENDAH FOTO SELLA KEL + -

II. BD +, UT TESTOST. N WNT N PRIA

III. BD & UT KARYOTIPING

IV. BD & UT +

RKH* VAGINO PLASTI

TFS KARYO TIPING

XY

LIHAT. AMENORE SEKUNDER

GONADEKTOMI & HRT

Y POS. PIT. H.TAL GONADEKT. -TX G. TROPIN -HRT

GONADEKTOMI & HRT


*BILA ADA TANDA KLINIS ANDROGEN PX KARYOTIPING

HRT

CORTISONE ( BILA TENSI NAIK )