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GANGGUAN PUBERTAS

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GANGGUAN PUBERTAS Dr Eka Agustia Rini Sp AK Sub Bagian Endokrinologi Ilmu Kesehatan Anak FK-UNAND / RS Dr M. Djamil Padang PRECOCIOUS PUBERTY Hypothalamus - Pituitary ... – PowerPoint PPT presentation

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Title: GANGGUAN PUBERTAS


1
GANGGUAN PUBERTAS
  • Dr Eka Agustia Rini Sp AK
  • Sub Bagian Endokrinologi Ilmu Kesehatan Anak
  • FK-UNAND / RS Dr M. Djamil Padang

2
PRECOCIOUS PUBERTY
3
Hypothalamus - Pituitary Gonad axis
4
INTRODUCTION
  • Epidemiology
  • Frequency girls gt boys
  • Girls most have a benign central cause
  • Boys 50 pathologic peripheral cause.
  • ? all boys with precocious puberty should undergo
    detailed investigation, but in girls additional
    investigation can be based on the clinical
    impression

5
Profiles of Girls with Precocious Puberty (N438) Profiles of Girls with Precocious Puberty (N438)
Age of onset between 7-7.9 year olds 6 year olds lt 6 years old. 59.6 22.4 18
Etiology Gonadotropin Dependent Gonadotropin independent 97.7 2.3
Neurogenic abnormalities (MR/CT skull) 18.4
Cisternino M, Arrigo T, Pasquino AM, et al. Etiology and Age Incidence of Precocious Puberty in Girls A Multicentric Study. J Pediatr Endocrinol Metab. 200013(suppl 1)695-701 Cisternino M, Arrigo T, Pasquino AM, et al. Etiology and Age Incidence of Precocious Puberty in Girls A Multicentric Study. J Pediatr Endocrinol Metab. 200013(suppl 1)695-701
6
Precocious Puberty
  • Definition
  • Appearance of secondary sexual characteristics
    boys lt 9 years and girls lt 8 years old (- 2SD)
  • Sex steroid ?
  • Estrogen female
  • Testosteronemale

7
Effect of sex steroid
  • Estrogen ?
  • Accelerated bone maturation and early epiphyseal
    fusion (tall child but short adult)
  • Uterus, mammary gland
  • Testosterone
  • Genital, Hirsutism, acne, male habitus
  • Generalsexual behavior, aggressiveness

8
Classification
  • GnRH dependent (central)
  • premature reactivation hypothalamus-pituitary-gona
    d axis ? increased gonadotropin ? increased sex
    steroids (dependent)
  • Usually idiopathic
  • GnRH independent (peripheral)
  • autonomous sex steroid secretion, ? depressing
    the hypothalamus-pituitary-gonad axis
  • Usually pathologic

9
Classification
  • Variant
  • premature thelarche
  • premature adrenarche
  • gynecomastia

10
Etiology GDPP
  • idiopathic
  • CNS
  • tumor
  • non-tumor post infection, radiation, trauma,
    congenital
  • iatrogenic
  • Delayed diagnosis of GIPP

11
Clinical manifestation GDPP
  • Always isosexual
  • Normal sequence of puberty
  • Hormonal profile increased gonadotropin and sex
    steroid

12
Etiology GIPP - male
  • Isosexual
  • adrenal tumor, CAH
  • testes cell Leydig tumor, familial
    testotoxicosis
  • gonadotropin-secreting tumor
  • non CNS hepatoma, germinoma, teratoma
  • CNS germinoma, adenoma (LH secreting)
  • heterosexual
  • Increased peripheral aromatization

13
Etiology GIPP - female
  • Isosexual)
  • McCune Albright
  • Severe hypothyroid
  • heterosexual
  • adrenal tumor, CAH
  • tumor ovarium arrhenoblastoma

14
Mc Cune Albright Syndrome
  • Trias
  • Precocious puberty / endocrine hyperactivity
  • Fibrodysplasia
  • Café au lait

15
Clinical manifestation GIPP
  • Isosexual or heterosexual (late onset CAH, tumor
    adrenal)
  • Disconcordant of sexual characteristics (testes
    volume inappropriate with pubertal stage -
    smaller)
  • Low or normal gonadotropin and increased sex
    steroid

16
Benign Premature Adrenarche
  • self-limited condition occurring before six years
    of age
  • characterized by the appearance of pubic and no
    further secondary sexual development.
  • normal growth patterns

17
Benign Premature Adrenarche
  • Normal bone age
  • Slight elevation of serum DHEA
  • Normal adrenal steroid hormone levels
  • Normal sex hormone levels
  • ACTH stimulation test to exclude late-onset CAH
  • GnRH test prepubertal pattern
  • Normal imaging studies
  • No specific treatment required

18
Premature Adrenarche
  • Excude virilization
  • clitoral enlargement, advanced bone age, acne,
    rapid growth, and voice change.
  • rapid progression
  • If virilization present
  • measure testosterone, 17-OHP and DHEA
  • USG adrenal or ovarian tumor
  • 17-OHP or DHEA? CAH

19
Benign Premature Thelarche
  • Isolated appearance of unilateral or bilateral
    breast aged 6 months to 3 years
  • No other signs of puberty or evidence of
    excessive estrogen effect (thickening of the
    vaginal secretions or bone age acceleration).
  • Ingestion or application of estrogen-containing
    compounds must be excluded as etiology

20
Benign Premature Thelarche
  • Normal growth rate and bone age
  • Normal levels of gonadotropins and estradiol
  • USG normal ovaries, prepubertal uterus
  • Usually resolves spontaneously and requires no
    treatment
  • re-evaluation at intervals of 6-12 months to
    ensure that premaure thelarche is not the
    beginning of isosexual precocious puberty

21
Gynecomastia
  • Breast enlargement in males
  • common in teenage years, lasting 2 years
  • differentiate with obese boys
  • lipomastia
  • no mammae disk
  • Pathological causes must be sought

22
Pubertal Gynecomastia
  • Incidence 50-60 of boys during early
    adolescence
  • breast tissue usually asymmetric and often
    tender.
  • If history and physical examination, including
    palpation of the testicles, are unremarkable,
    reassurance and periodic reevaluation are all
    that is necessary. Most cases resolve in one to
    two years.

23
Gynecomastia
  • Drugs
  • sex steroids, hCG, psychoactive (phenotiazine),
    antituberculosis, testosterone antagonist
    (ketoconazole, cimetidine, spironolactone)
  • Malnutrition
  • Idiopathic (most common)
  • Tumor producing disease
  • hepatoma, adrenal, testes, LH and hCG producing
    tumors

24
Pubertal Gynecomastia
  • Familial gynecomastia
  • X-linked recessive trait or a sex-limited
    dominant trait
  • unless associated with hypogonadism no further
    evaluation in an otherwise normal boy
  • If severe, gynecomastia ? cosmetic surgery.
  • Pathologic gynecomastia
  • Klinefelter's syndrome high risk for breast
    cancer
  • prolactin-secreting adenomata

25
Pubertal Gynecomastia
  • Pathologic gynecomastia
  • hormone-secreting tumors (testes, hepatoma),
    cirrhosis, hypo- and hyperthyroidism.
  • Drug induced (marijuana, phenothiazines, opiates,
    amphetamines, digitalis, estrogens, ketoconazole,
    spironolactone, isoniazid, tricyclic
    antidepressants, cimetidine, etc).
  • If worsens and associated with psychologic
    morbidity ? bromocriptine, tamoxifen
  • reduction mammoplasty rarely indicated.

26
Diagnostic work up
  • Gonadotropin dependent or independent?
  • Etiology?

27
Hypothalamus
GnRH
Pituitary
(-)
LH/FSH
Gonad
E2 or T
H-P-G axis
28
Hypothalamus
Primary
GnRH
Pituitary
(-)
LH/FSH
Gonad
Sex steroid ?
H-P-G axis in GDPP
29
Hypothalamus
GnRH
Pituitary
(-)
LH/FSH
Gonad
Extra Gonadal
PRIMARY
Sex steroid ?
H-P-G axis in GIPP
30
Diagnostic work up
  • Historyage of onset, progressivity, family
    history, growth, symptoms extragonadal cause
    (adrenal), CNS complaints, gelactic laughter
    (hamartoma), previous history encephalitis,
    meningitis TB
  • Physical examinationpubertal stage, signs of
    virilisation, height, testes size (small
    indicative of perpheral cause), CNS signs, skin
    (acne, café au lait),

31
Diagnostic work up
  • Laboratorygonadotropin, bHCG, 17-OHProgesterone
    (CAH), cortisol (Cushing syndrome, adrenal tumor)
  • ImagingBone age, pelvic ultrasound, skull x-ray,
    CT/MRI, bone survey (McCune Albright),

32
Therapy
  • According to the etiology
  • GDPP idiopathic GnRH agonis
  • GIPP medroxy-progesteron, ketoconazole, dll
  • Variant observation

33
Prognosis
  • According to etiology
  • GDPP idiopathic GnRH agonis
  • Final height potential genetic height
  • Preserved fertility
  • Psychosocial minimal, regression of secondary sex
  • GIPP medical
  • Potential genetic height ?
  • Regression of secondary sex ? ?

34
Conclusion
  • Not all pubertal disorders are pathologic
  • Early increase of sex steroid should be
    thoroughly investigated
  • GnRH agonist drug of choice for GDPP

35
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36
DELAYED PUBERTY
37
Definisi
  • Pubertas terlambat bila tidak adanya tanda-tanda
    pubertas
  • laki-laki pada usia 14 tahun
  • perempuan pada usia 13 tahun
  • Klasifikasi
  • hipergonadotropik hipogonadism
  • hipogonadotropik hipogonadism
  • Ammenorrhoe primer
  • Ammenorrhoe sekunder

38
hipogonadism
Hipergonadotropik
Hipotalamus
LHRH
LH/FSH
Hipofisis
(-)
Target Organ (gonad)
Primary defect
Sex Steroid
39
Hipergonadotropik hipogonadism
  • Dengan kelainan kromosom
  • Dysgenesis gonad
  • Sindrom Turner
  • Pure gonadal dysgenesis
  • Sindrom Klinefelter
  • Androgen Insensitivity Syndrome

40
Hipergonadotropik hipogonadism
  • Tanpa kelainan kromosom
  • kongenital
  • gangguan biosintesis steroid adrenal
    (P450c17,P450scc,3bHSD) dan gonad (17-KS, P450
    aromatase)
  • anorchia, ovary resistant syndrome, LH resistance
  • didapat
  • radiasi, chemotherapy, proses autoimun

41
hipogonadism
Hipogonadotropik
LHRH
Hipotalamus
Primary defect
LH/FSH
Hipofisis
(-)
Target Organ (gonad)
Sex Steroid
42
Hipogonadotropik hipogonadism
  • Constitutional delay
  • Kelainan Susunan Syaraf Pusat
  • Tumor (craniopharyngioma, germinoma, optic
    glioma, histiocytosis X)
  • Struktural (mid line defect)
  • Sindrom Kallmann
  • hipopituitarism idiopathic
  • pasca tindakan (radiasi, khemoterapi inflamasi,
    infiltrasi - hemosiderosis)

43
Hipogonadotropik hipogonadism
  • Penyakit kronis
  • endokrin, malnutrisi/anorexia nervosa, kelainan
    sistemik
  • Aktivitas fisik berlebihan
  • Sindrom-sindrom
  • Prader-Willi Laurence-Moon-Biedl

44
Hypothalamic and pituitary causes of pubertal
failure-low gonadotrophins
  • Congenital defects
  • Kalmann syndrome
  • Congenital adrenal hypoplasia
  • Septoptic dysplasia
  • Development defect of pituitary
  • Tumors, direct effects or following radiotherapy
    or surgery
  • Haemochromatosis

45
Italian Working Group on Endocrine Complication
in non-endocrine diseases, 1993
46
Delayed puberty in Thalassamia patient
  • Italian Multicenter Thalassemia study 1993, (29
    centers), 3092 patients
  • Puberty failure
  • males 41
  • females 39,5
  • All patient with hemachromatosis need periodic
    careful endocrine evaluation

47
Tatalaksana
  • Anamnesis
  • Pemeriksaan fisik
  • Pemeriksaan penunjang
  • Terapi

48
Anamnesis
  • Riwayat perkembangan pubertas di dalam keluarga
  • Data pertumbuhan perkembangan
  • Riwayat penyakit/pengobatan dahulu
  • Fungsi penciuman

49
Pemeriksaan fisik
  • Pemeriksaan fisik secara umum
  • Pemeriksaan neurologis (funduskopi) d
  • Antropometri (TB, BB, rasio segmen atas dan
    bawah, rentang lengan)
  • Status pubertas
  • Stigmata suatu sindrom (pendek, obese, retardasi
    mental, webbed neck dll)

50
Pemeriksaan Penunjang
  • Pencitraan
  • usia tulang, CT scan/MRI kepala USG genitalia
    interna (atas indikasi),
  • Hormonal (basal/ uji GnRH)
  • LH,FSH,Prolactin, Estrogen atau testosterone
  • Dan lain-lain
  • analisis kromosom (atas indikasi)
  • uji fungsi penciuman

51
Pubertal Delay
Any signs of puberty?
  • Check
  • height, FSH/LH, T4/TSH,
  • Prolactin, Karyotype (girls)

YES
NO
Low FSH/LH
High FSH
oxandrolone / sex steroids
GnRh / sex steroids
sex steroids
Monitor growth pubertal progress
52
Hormonal replacement
  • Discrepancies exist concerning
  • the age of initiation
  • dosage
  • Some authors postponing treatment until the age
    when arrested sexual maturation in easily
    diagnosed
  • Early treatment supporters Insist on the
    psychological benefits treatment
  • Sexual development should be induce at an
    appropriate age

53
Recommended hormone replacement
  • When to wait watchfully and when to test and
    refer are part of the art of medicine
  • Female patients
  • chronological age gt 13-14 years
  • bone age gt 11 years
  • Male patients
  • chronological age gt 14-15 years
  • bone age gt 12 years

54
Hormonal replacement
  • Females
  • start w estrogen 0,25 mg daily (6-9 months)
  • after 9 MOs cyclic therapy w estrogen for 1st 21
    days
  • Males
  • testosterone enanthate 50 mg IM/ monthly
  • after 6-9 MOs, dose gradually increased to 200
    mg/3 weeks (2-3 years)

55
KESIMPULAN
  • Pubertas berlangsung menurut stadium, umur
    tertentu
  • Pubertas harus selalu menjadi perhatian orangtua
    / tenaga kesehatan
  • Setiap tenaga kesehatan dapat mendeteksi kelainan
    pubertas secara dini dan segera melakukan rujukan

56
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