Transcript As a consequence

Puberty
Definition of puberty
It is the physiological stage that leads
to reproductive capability manifested
by spermatogenesis in the male and
ovulation in the female.
Conditions influence the age onset
of puberty
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Socioeconomic conditions
Nutritional status
States of health
Chronic disease
Altitudes
Genetic factors
Strenuous physical activity
Female secondary sex
characteristics
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Breast enlargement the first sign of
puberty in % 85 girls
Pubic hair
Axillary hair
Vagina and uterus
Menarche (stage 4), mean age 12.8
years
Male secondary sex characteristics
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External genitalia
Pubic hair
Axillary and facial hair
Voice change
Spermarche
Changes in body size and shape
1. Stature: PVH
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F stage III
M stage IV
Bone age
Body composition
Body build proportions
Strength
Precocious puberty
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Appearance of any sign of secondary
sexual maturation at an age more
than 2SD below the mean.
The age of 7y in girls and 9y in boys
Precocious puberty
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True P. puberty
Pseudo P. puberty
Contrasexual precocity
True precocious puberty
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Idiopathic true precocious puberty
CNS tumors
Other CNS disorders
After late treatment of C.A.H.
or previous chronic exposure to
gonadal steroids
Idiopathic precocious puberty
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Most often sporadic, rarely A.R.
Is more common in girls
Progression of secondary sexual
maturation is often more rapid than
normal puberty
There is increased risk for the
development of Ca. of breast in
adulthhood
Ht. velocity, somatic development,
skeletal maturation are increased .
Treatment of true P.P
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Medroxyprogesterone acetate
Cyproterone acetate
The drug of choice is LHRH agonists
Objectives of the managements
and treatment of T.P.P
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Detection and treatment of an expanding
intracranial lesion
Arrest of premature sexual maturation
Regression of secondary sexual
characteristics
Attainment of normal mature height
Reduction of risk of sexual abuse
Prevention of pregnancy in girls
Preservation of future fertility
Diminish the increased risk of breast
cancer
Action of LHRH agonists in TPP
A selective highly specific
 Pharmacological clamp on the secretion of
gonadotropin
 Chronic administration induces
desensitization of the pituitary
gonadotrope to the action of endogenous
LHRH.
As a consequence:
 Inhibition of pulsatile secretion of LH and
FSH
 Inhibition of gonadotropin secretion
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Indications for therapy with LHRH
agonists in T.P.P
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In children with endocrine features of
T.P.P
Rapid advancement over a period of
6 mo to 1 y
A serum testosterone concentration
> 1ng/mL in boys less than 8 y of
age
Onset of menarche in girls less than
9 y of age
Side effect of LHRH agonists
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Erythema (most common), sterile abscess
and hematoma at the site of injection
Anaphylactic reaction (rare)
Asthma attack (nasal route)
Bone demineralization in girls
Antibody formation
Acceleration of sexual precocity
Diarrhea, constipation
Pseudo-precocious puberty
(In boys)
Gonadotropin – secreting tumors
Inside CNS
Outside CNS
2. Increase androgen secretion by adrenal
or testis
C.A.H.
Virilizing adrenal tumor
Leydig cell adenoma
Familial testotoxicosis
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Pseudo-precocious puberty
(In girls)
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Estrogen – secreting ovarian or
adrenal neoplasm
Ovarian cyst
Peutz – jeghers synd.
Pseudo – precocious puberty
(In both sexes)
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McCune – Albright synd.
Hypothyroidism
Iatrogenic or exogenous
McCune – Albright synd.
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Café au – lait spots
Polystotic fibrous dysplasia
Endocrine hyperfunction
Contrasexual precocity
Feminization in boys and virilization in
girls
Feminization in males
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Adrenal neoplasm
Chorioepithelioma
11-β hydroxylase def.
Late-onset C.A.H.
Testicular neoplasm (peutz-jeghers synd.)
↑Extraglandular conversion adrenal
androgens to estrogen
Iatrogenic (exposure to estroges)
Virilization in girls
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C.A.H. (21-, 11-, 3  HSD def.)
Virilizing adrenal neoplasm
Virilizing ovarian neoplasm
Iatrogenic (exposure to androgens)
Variation of pubertal development
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Premature thelarche
Premature adrenarche
Premature menarche
Adolescent gynecomastia in boys
Classification of delayed puberty
Idiopathic
Hypogonadothropic hypogonadism
Hypergonadothropic hypogonadism
Hypogonadoropic hypogonadism
CNS disorders
Tumors
Congenital malformations
Radiation therapy
Head trauma
Other causes
Classification of delayed puberty
Isolated gonadotropin deficiency
Kallmann syndrome with hyposmia or
anosmia
Congenital adrenal hypoplasia
Other disorders
Idiopathic and genetic forms of multiple
pituitary Hormone deficiencies
Miscellaneous disorders
Prader-willi syndrome
Laurence-moon-biedl syndrome
Characteristics of isolated
gonadotropin deficiency
Males more commonly affected
Familial or sporadic
Height normal
Eunuchoid skeletal proportions
Delayed bone age
Small testes: diameter ≤ 2.5 cm
Normal adrenarche
Examine for anosmia or hyposmia (kallmann
syndrome)
Look for associated malformations (facial,
skeletal, renal)
Features of Kallmann syndrome
Clinical
LHRH deficiency: absent or arrested puberty
Anosmia or hyposmia
In infancy: microphallus, cryptorchidism
Normal stature and growth in childhood
Normal adrenarche
Eunuchoid proportions
Associated midline defects
MRI: aplasia or hypoplasia of olfactory bulbs
Cont.
Features of Kallmann syndrome
Prevalence: approximately 1 in 7500 males,
1 in 50000 females
Inheritance: sporadic and familial cases;
genetic heterogeneity X linked
X-linkes recessive
X chromosome deletion: Xp22.3
Autosomal (Dominat, recessive)
Anatomy: developmental field defect
Aplasia or hypoplasia of olfactory bulb
Classification of delayed puberty
Functional gonadotropin deficiency
Chronic systemic disease and malnutrition
Hypothyroidism
Diabetes mellitus
Cushing disease
Hyperprolactinemia
Anorexia nervosa
Psychogenic amenorrhea
Delayed puberty and/or menarche, especially in
female athletes and ballet dancers
Cont.
Classification of delayed puberty
Hypergonadotropic hypogonadims
Males
Klinefelter syndrome
Other forms of primary testicular failure
Chemotherapy
Radiation therapy
LH resistance
Testicular biosynthetic defects
Anorchia and cryptorchidims
Cont.
Classification of delayed puberty
Females
Turner syndrome
46 XX and 46 XY gonadal dysgenesis
Other forms of primary ovarian failure
Premature menopause
Radiation therapy
Chemotherapy
Autoimmune oophoritis
Polycystic ovary disease
Galactosemia
Endocrine diagnosis of constitutional
delayed adolescence and hypogonadotropic
hypogonadism
No single test reliably discriminates
between the two diagnoses
Onset of puberty in boys is indicated
by testes > 2.5 cm in diameter
Serum testosterone concentration >
50 ng/dl
Pubertal LH response to LHRH bolus
Pubertal pattern of LH pulsatility
Endocrine and imaging studies in
delayed adolescence
Initial assessment
 Plasma testosterone or estradiol
 Plasma FSH and LH
 Plasma thyroxine (and prolaction)
 Bone age and lateral skull roentgenograph
 Test of olfaction
Cont.
Endocrine and imaging studies in
delayed adolescence
Follow-up studies
 Karyotype (short, phenotypic females)
 MRI and/or CT scan
 Pelvic sonography (females)
 LHRH test
 hCG test (males)
 Pattern of pulsatile LH secretion
 Visual acuity and visual fields
Objectives in management and
treatment and therapy of delayed
adolescence
Objectives
determine site and etiology of abnormality induce
and maintain secondary sexual characteristics
induce pubertal growth spurt
prevent the potential short-term and long-term
Psychological, personality and social handicaps of
delayed puberty
Ensure normal libido and potency
Attain fertility
Cont.
Therapy of delayed puberty
Therapy
Reassurance and follow-up
Repeat evaluation (including serum
testosterone or estradiol) in 6 mo
Psychosocial handicaps, anxiety, highly
concerned:
Therapy for 4 mo with
Boys: testosterone enanthate 100 mg IM every
4 wk at 14-14.5 y of age.
Girls: ethiyl estradiol 5-10 ug daily by mouth or
conjugated estrogens 0.3 mg daily by mouth
at 13 y of age
Hormonal substitution therapy in
boys with hypogonadism
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Goal: to approximate normal adolescent
development when diagnosis is established
Initial therapy: at 13 y of age, testosterone
enanthate 50 mg IM every month for about 9 mo
(6-12 mo)
Over the next 3 to 4 y: gradually increase dose to
adult replacement dose of 200 mg every 2-3wk
Begin replacement therapy in boys with
suspected hypogonadotropic hypogonadism by
bone age < 14 y
To induce fertility at appropriate time: pulsatile
LHRH or FSH and hCG therapy
Hormonal substitution therapy in
girls with hypogonadism
When diagnosis of hypogonadism is firmly
established begin hormonal substitution
therapy at 12-13y
Goal: to approximate normal adolescent
development
Initial therapy: ethinyl estradiol 5 ug by
mouth or conjugated estrogen 0.3 mg (or
less) by mount daily for 4-6 mo.
After 6 mo of therapy begin cyclic therapy:
Estrogen: first 21 d of month
Progestogen: 12th to 21st day of month