Mengenal Berbagai Penyakit

Metabolik Endokrin

Herry Nursetiyanto
 Penyakit-penyakit Utama di bidang
Metabolik Endokrin

Diabetes
Tiroid
Endokrin lain : hipofisis, tiroid,
adrenal, gonad, genetik
Definition of Diabetes Mellitus

Diabetes mellitus is a group of metabolic

diseases characterized by hyperglycemia
resulting from defects in insulin secretion,
insulin action, or both

-cell Type 2 Insulin

Dysfunction Diabetes Resistance

DeFronzo et al. Diabetes Care 1992;15:318-68

 Natural History of Type 2 Diabetes
Years from -10 -5 0 5 10 15
diagnosis
Onset Diagnosis

Insulin resistance
nsulin secretion
Impaired
Fasting
Impaired Glucose Glucose
Tolerance (IGT) (IFG)

Post-Meal glucose
Microvascular complications
Fasting
glucose Cardiovascular (macrovascular)
Prediabe Complications
Type 2 diabetes
tes
mlo-Halsted BA, Edelman SV. Prim Care. 1999;26:771-789
than DM. N Engl J Med. 2002;347:1342-1349
 The Ominous Octet
Decreased
Incretin Effect
Islet -
cell

Increased
Impaired Lipolysis
Insulin Secretion

Islet -
cell

Increased Increased Glucose

Glucagon Reabsorption
Secretion

Increased
HGP
Decreased Glucose
Neurotransmitter
Uptake
Dysfunction
eFronzo RA. Diabetes 2009; 58: 773-795
Diabetes is Growing exponentially across the World

Development in diabetes prevalence estimates

by edition of IDF diabetes atlas
First edition Second edition Third edition Fourth edition
2000 2003 2006 2009
450

400
million people with diabetes

350

300

250

200

150
2000 2003 2006 2009 2012 2015 2018 2021 2024 2027 2030
Note: Data covers 20-79 age group. For each edition prevalence for intervening years extrapolated by applying a constant
growth factor. Source: IDF Diabetes Atlas 1 st, 2nd, 3rd and 4th edition, International Diabetes Federation, 2000, 2003, 2006 and
2009, respectively.
 Kriteria Diagnostik
Normal IFG or IGT Diabetes
( mg/dl ) ( pre-diabetes ( mg/dl )
) mg/dl
GD puasa < 100 100 - < 126 126

2 jam post < 140 140 - < 200

TTGO 200
GD sewaktu 200

IFG : Impaired Fasting Glucose = gula darah puasa terganggu (GDPT)

IGT : Impaired Glucose Tolerance = tolernsi glukosa terganggu (TGT)
American Diabetes Association: Position statement. Screening for type 2 diabetes.
Diabetes Care 2007
 Komplikasi Diabetes

Jangka pendek Jangka panjang

Pembuluh
Pembuluh darah
darah kecil
kecil Pembuluh
Pembuluh darah
darah besar
besar

Hipoglikemia
Hipoglikemia Retina
Retina Jantung
Jantung Koroner
Koroner
Ketoasidosis
Ketoasidosis Ginjal
Ginjal Stroke
Stroke
HONK
HONK Syaraf
Syaraf Kaki
Kaki Diabetik
Diabetik
Patogenesis Kaki
Patofisiologi diabetes
kaki diabetik
 Charcot Foot
Jean-Martin Charcot
Obesitas (sentral)
O B E S I TA S
Sasaran
Penatalaksanaan
1. Obesitas
1. Penurunan
Penurunan BB (5-10%)
BB (5-10%) dalam
dalam 6
6 -- 8
8
bulan.
bulan.
2. Mencegah
2. Mencegah peningkatan
peningkatan kembali
kembali BB,
BB,
menghindari sindrom
menghindari sindrom yoyo.
yoyo.
3. Mempertahankan
3. Mempertahankan BB
BB jangka
jangka panjang.
panjang.
4. Memperbaiki
4. Memperbaiki penyakit
penyakit penyerta.
penyerta.
5. Memperbaiki
5. Memperbaiki kualitas
kualitas hidup.
hidup.

Sumber :: Lean,
Sumber Lean, 1996;
1996; Andreoli,
Andreoli, 1997;
1997; Scott
Scott et
et al,
al, 1998
1998
 Penatalaksanaan
Pengaturan diet dan kegiatan jasmani
Terapi tingkah laku
Psikoterapi individu
Terapi kelompok
Terapi farmakologi
Obat-obatan yang menekan napsu makan:
- phenylpropanolamine Hcl,
- fenfluramine Hcl, dan derivate amphetamine
Hati-2 efek rebound: peningkatan berat badan, lethargy

dan depresi.
Obat-obat : orlistat, sibultiramine cukup bermanfaat.
 Pembedahan

- kasus obesitas berat (BB> 100% dari

normal),
prosedur pembedahan dianjurkan.
- Tindakan : pengurangan volume lambung,
bypass usus ,pengangkatan
lemak (liposuction).

 Hipotalamus

Hipofisis
Pengaturan fungsi
Kelenjar Tiroid

Kelenjar tiroid

Target organ
 Disfungsi Tiroid
HIPOTIROID Hipotiroid Hipertiroid HIPERTIROID
klinis subklinis subklinis klinis

TSH
TSH >
<<<

FT4,T4 FT4,T 4
total,FT3 total, FT3
normal normal
 Bentuk-bentuk Kelainan pada Kelenjar
Tiroid

Nodul ( Benjolan ) Nodul Multiple

Tunggal
Jinak Jinak
Ganas Ganas
Hypotiroidism
PITUITARY ADENOMA:

Prevalence:
200 cases / 1 million

Incidence:
2 cases / 100.000

pituitary incidentalomas

Saegar W, et al. Pathohistological classification of pituitary tumors:

10 years of experience with the German Pituitary Tumor Registry.
European J of Endocrinol 2007;156:203-16. Harrisons The Principles of Internal Medicine 17th ed.
 Classification and
Clinical Manifestation

PITUITARY ADENOMAS Clinical manifestation

are related to:
MICRO-
ADENOMA FUNCTIONAL Local mass effects
(< 10 mm)
Excess of hormone/s
Deficiency of hormone/s
MACRO-
NON-
ADENOMA
FUNCTIONAL
(> 10 mm)
 Local Mass Effects

Are common features of intrasellar tumor. Correlates poorly

Headaches
to adenoma size or extension.

Suprasellar
Visual field defects due to compression of the optic chiasm.
extension
Lateral
Cranial nerve III, IV, and VI palsies, as well as effects on
mass
ophthalmic and maxillary branches of nerve V.
invasion
Temporal &
frontal lobe May lead to seizures, personality disorders, and anosmia.
involvement

Hypothalamic Hypogonadism, diabetes insipidus, sleep disturbances,

encroachment dysthermia, appetite disorders.

Harrisons The Principles of Internal Medicine 17th ed.

Clinical Presentation by Endocrine Secretion

Type Sign and Symptoms Typical Size at

Diagnosis
Prolactinom Women: amenorrhea, Women:
a infertility, galactorrhea microadenoma
Men: hypogonadism, Men: macroadenoma
Usual
decreased libido, erectile presentation in
dysfunction, infertility, men:
gynaecomastia, galactorrhea Headaches
(rarely) Visual
Nonsecretin Hipopituitarism Macroadenoma
symptoms
g Hypogonadism
gonadotropi
n
GH- Gigantism in children Macroadenoma
secreting Acromegaly in adults
ACTH- Cushing syndrome Macroadenoma
secreting Nelsons disease
TSH- Hypertyroidism Can be
secreting microadenoma, often
Oruckaptan HH, et al: Pituitary adenomas: results of 684 surgically treated patients and review macroadenoma
of the literature. Surg Neurol 2000; 53:211.
 Perform initial
basal
determination
s of all
pituitary and
peripheral
hormones plus
IGF-I13 .

Casanueva FF, et al. Guidelines of the Pituitary Society for the diagnosis and management of prolactinomas.
Clin Endocrinol (Oxf ) 2006;65:265-73.
Casanueva FF, et al. Guidelines of the Pituitary Society for the diagnosis and management of prolactinomas.
Clin Endocrinol (Oxf ) 2006;65:265-73.
Klibanski A. Prolactinomas. N Engl J Med 2010; 362:1219-26.
 Trans-sphenoidal Surgery
Surgical cure rate:
~ 80 to 90% for microadenomas,
< 50% for macroadenomas.

Mortality rate is extremely low (0.2%).

Immediate complications are infrequent.

(CSF leak in 1.4%)

Barker FG II, Klibanski A, Swearingen B. Transsphenoidal surgery for pituitary tumors in the United States,
1996-2000: mortality, morbidity, and the effects of hospital and surgeon volume. J Clin Endocrinol Metab 2003;88:4709-19.
 Radiotherapy
Radiotherapy is not an acceptable
primary therapy.
Major side effects:
Hipopituitarism,
Damage of the optic nerve,
Neurological disfunction,
Increase risk of stroke, and
Secondary brain tumor.

Casanueva FF, et al. Guidelines of the Pituitary Society for the diagnosis and management of prolactinomas.
Clin Endocrinol (Oxf ) 2006;65:265-73.
 Radiotherapy
Indications:
Patients who do not respond to dopamine agonist,

Those who are not cured by surgery,

Patients with large lesions who are not candidates

for further surgery,

Malignant prolactinoma.

Jezkov J, et al. Use of the Leksell gamma knife in the treatment of prolactinoma patients.
Clin Endocrinol (Oxf) 2009;70:732-41.
Hypothalamic-pituitary axis
Gigantisme dan Akromegali
 Hypothalamic-pituitary-gonadal
axis

GnRH : gonadothropin releasing hormon, LH Luteneizing hormon,

FSH : folicel stimulating hormon, T : testosteron
Hypogonadisme
GH Deficiency
Bone Age:
usia tulang sesuai dg anak
laki-laki 11 tahun
% tinggi badan akhir 82,3%

Kesimpulan:
Retarded boy,
Irregularitas permukaan
metafisis os radius dan ulna
kiri
Pemeriksaan kromosom pada Sindroma Turner

20 metafase diperiksa
secara tetap
Semua metafase
memperlihatkan adanya 45
buah kromosom berkurang
satu pada kromosom seks
(kromosom seks XO)
Tidak didapatkan kelainan
bentuk kromosom
Kesimpulan:45, XO
(Sindroma Turner)
Achondroplasia
Congenital adrenal hyperplasia
It is a familial disorder of adrenal
steroid biosynthesis with autosomal
recessive mode of inheritance.
The defect is expressed as adrenal
enzyme deficiency.
5 major Enzymes deficiency are
clinically important
21-Hydroxylase
11-b-Hydroxylase
17-a-Hydroxylase
3-b-Hsteroid hydrogenese
20,22 Desmolase deficiency
 479.90 ug/dL L : N ,
P:
DHEA

46546
ng/dL
519.80 ng/dLL:N,
P:

3.37 ug/dL

Classic
CAH
Rarer forms of CAH

Jalur Biosintesa Steroid di Kortex Adrenal

 Treatment
a.Medikamentosa
Glucocorticoids:

- Dexamethasone (0,25-0,75 mg) at bed time once

daily.
to supress :early morning peak ACTH and
androgen
secretion.
- Prednisolone ( total 5-7,5 mg/day)2/3 at bed
time & 1/3 on waking)
- Hydrocortisone : single/split dosing (median 30
mg/day)
Mineralocorticoids:
- Fluodrocortisone: 100-200 ug/day)
b.Surgical mangement of girl with ambigous
genetalia
complex and includes reconstructive surgery
 Feokromositoma
Tumor yang biasanya berasal
dari kelenjar adrenal
Korteks: kortisol, aldosteron
Medula: katekolamin
(epinefrin, norepinefrin)

Gejala klinis: ansietas, panik,

sakit kepala, mual-mual,
muntah, banyak keringat,
takikardia, palpitasi,
hipertensi, nyeri perut kiri
atas , BB turun, lemah,
kadang-kadang demam, TD
turun saat berdiri, intoleransi
glukosa, hiperkalsemia
Diagnosis Cushing Disease/Sindroma
Penatalaksanaan
Terima Kasih