PEDIATRIC UROLITHIASIS

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Primary amenorrhea
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Definition

• Failure to initiate spontaneous menses by the age
  of 16 or evidence of pubertal onset by age of
  14.
• It is a rare condition seen in less than 0.1 of
  the general population.

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Introduction

• Puberty is a period of transition between
  childhood life and adult womanhood life during
  which sexual maturation occurs
• The hypothalamus is initiator of these pubertal
  changes in the following order adrenarche,
  gonadarche and menarche.

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Hypothalamus
Oxytocin
PVN
ADH
SON
Hypothalamus Pituitary Stalk Pituitary gland
GnRH Satiety center
VMN
Chiasma
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U-shaped LH curve
Exercise Anorexia Post-partum
Reversal
High opioid High melatonin Low leptin
Pre-pubertal still
Neonate Child
Adult
This curve is present even in agonadic child The
drop of opioid and melatonin, or rise of leptin
allows the release of GnRH
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Two independent events of puberty
Adrenarche Gonadarche
Stimulus CASH GnRH
Timing Precedes growth spurt Follows growth spurt
Mediator DHEA E2
Manifestation Pubic hair Axillary hair Growth spurt Menarche
Disease Not in Addisons Not in Turners
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Tanner staging of puberty
Stage Age Breasts Pubic hair E2 Pg/ml
I 7 Nipple Nil lt 10
II 10 Breast bud Sparse labial 10-20
III 11 Smooth contour Dark curled hair 20-40
IV 13 Secondary mound Adult type hair 40-60
V 14 Mature breast Adult distribution gt 60
NB Menarche coincides with stage IV
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Second growth spurt
It is earlier in females It is higher in males It
is related to GH, IGF-1 Gonadal
steroids Initiates it Terminates it
Increments inches/years
1 2 3 4
Boys
Girls
0 2 4 6 8 10 12 14 16
18 20
Age in years
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Leveling of amenorrhea

• For proper menses to occur there should be a nice
  integration between the hypothalamus, pituitary,
  ovary and responsive uterus as well as a patent
  effluent genital tract.
• We have four levels Level 1 (Uterus and outflow
  tract), Level II (Ovary), Level III (Pituitary),
  Level IV (Hypothalamus)

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Categorization

• Based on presence or absence of 2ry sexual
  characteristics
• No 2ry sexual characteristics
• Breast development, but no pubic and axillary
  hair
• Normal 2ry sexual characteristics
• Incompletely developed 2ry sexual characteristics

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Primary amenorrhea
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Cholesterol
Acetate

11OHase
17OHase
17OHase
Corticosterone
DOC
?4P

• ?5P

Aldosterone
Desmolase
17OH?4P

• 17 OH?5P

11 desoxy cortisol or compound S
Desmolase
11OHase
AD

• DHEA

Cortisol
E1
Te
Cortisone
E2
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1ry amenorrhea with no 2ry sexual charachteristics
central
FSH low

• Hypogonadotropic hypogonadism
• Kallmanns syndrome 1ry amenorrhea (lack GnRH)
  Anosmia
• Craniopharyngioma either by damaging the
  hypothalamus or interferes with the transport o
  hormones

If GnRH stimulation test vegtgtgt
hypothalamus Imaging needed for tumors
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Craniopharyngioma Rathkes pouch tumor

• GH (Dwarf, obese)
• Gn (Delayed puberty)
• ADH (DI)

ICT Stalk section Optic chiasm
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1ry amenorrhea with no 2ry sexual charachteristics
gonadal
FSH high

• Hypergonadotropic hypogonadism
• Unresponsive end organs
• Differential diagnosis

• Turners syndrome
• Swyers syndrome
• Pure gonadal agenesis (46XX 46XY)
• Mixed gonadal dysgenesis
• Abnormal X chromosome

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Turner syndrome

• Turners stigmata
• Sexual infantilism
• Short stature
• Webbed neck
• Spaced nipples
• Cubitus valgus
• Shield chest
• Pigmented nevi
• Coarctation of aorta
• Renal anomaly
• Streak gonads

Turners Karyotype XO XO/XX XXp- XXr
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Turner syndrome
Cystic hygroma Fetal hydrops
Cystic hygroma
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1ry amenorrhea with breast development and lack
of pubic axillary hairs

• ve gonadal secretion, no manifestations of
  androgen secretion
• Reflects the absence of androgen receptors
  complete androgen insensitivity syndrome
  (testicular feminization)
• Genotype 46XY male intra-abdominal testes
• Phenotype female normal contour, no uterus,
  vaginal dimple.. Due to mullerian-inhibiting
  substance
• Gonadectomy,,,, high malignancy rate
• Raise as female and create new vagina
• Psychological counseling
• Islamic view regarding inheritance

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Morris syndrome (XY female)
Male karyotype Female phenotype Male level of
testosterone Complete Receptor failure 5
alpha-reductase defect
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1ry amenorrhea with normal 2ry sexual
charachteristics

• Normal gonadal secretion
• Vast majority 46XX, amenorrhea due to anatomical
  abnormalities
• In case of absent vagina and/or uterus Creation
  of new vagina is the answer (dilators,
  vaginoplasty)
• With yterine/vaginal abnormalities always think
  of renal abnormalities

• With no uterus
• Mullerian agenesis (Mayer-Rokitansky)
• XY female (Morris)

• With a uterus
• Gynaetresia
• Imperforate hymen
• T.S vaginal septum
• Hypoplasia uteri
• Genital TB
• Systemic illness
• Constitutional delay

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1ry amenorrhea with incomplete 2ry sexual
charachteristics
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Comparison
Mullerian agenesis XY female
Karyotype XX XY
Heredity -ve XLR
Sexual hair Female distribution Hairless
Te Female range Male range
Anomaly Yes Rare
Tumor No 5
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Primary amenorrhea with sexual infantilism

• Obese
• Frohlichs syndrome
• Laurance-Moon-Biedl syndrome
• Hand-Schuller-Christian disease
• Prader-Willi syndrome
• Craniopharyngioma
• Suprasellar-germinoma

• Thin
• Exercise related
• High B-End
• High catechol estrogen
• Anorexia nervosa
• Weight loss
• Systemic illness
• Tuberculosis
• SCD
• Thalassemia

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Primary amenorrhea with sexual infantilism

• Tall
• Pure gonadal agenesis
• Swyers syndrome
• Kallmanns syndrome
• 17 OHase deficiency
• 17-20 desmolase deficiency

• Short
• Pituitary dwarf
• Sexual
• Asexual (Laron)
• Turners syndrome
• Hypothyroidism
• Constitutional delay of puberty

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Comparison
Item Pure gonadal agenesis Kallmanns syndrome
Karyotype XX or XY (Swyers) XX
FSH High Low
Gonad Streaks Ovary
Humegon No response Good
Association Gonadoblastoma Anosmia
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Weight loss amenorrhea
Simple Anorexia nervosa
Age Any Young
Psychic No Yes
Weight loss Added features 20 of IBW No More Dehydration
Hormones Normal ? GH, rT3, Carotene, DA ? PRL, LH, T3, E2, ADH
GnRH therapy Useful Not
Complication No Possible
As the fault extends to the pituitary in
anorexia, GnRH pulse therapy is not effective in
restoring menstruation.
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Comparison
Turners syndrome Noonans syndrome
Karyotype 45/XO 46/XXp-
Gonad Streak Ovary
Stigmata Yes Yes
Heart CoA PS
IQ Normal Low
Can Turner cases got pregnancy? Yes
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Primary amenorrhea
Ch FSH LH E2 Te PRL PWT
Turners XO ? ? ? -ve
AIS XY ? ? ? -ve
Kallmann XX ? ? ? ? -ve
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Evaluation of primary amenorrhea

• History
• Personal history
• Family history
• Past history
• Physical examination
• Secondary sex characteristics
• Virile manifestations
• Weight, height, span
• Sonographic assessment
• Laparoscopy
• Gonadal biopsy

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Investigation

• Buccal smear
• Karyotying
• Endocrine evaluation
• FSH/LH, PRL/TSH
• Estrogen (PWT, C.I, E2 assay)
• Androgen (Te, DHEAS)

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Management of primary amenorrhea

• The aim of treatment is to attain maximum
  physiologic function of which an individual can
  attain.
• No treatment until the diagnosis is solid.
• The majority will be able to achieve satisfactory
  sexual life but the prospect of fertility may be
  poor.
• HRT may be needed for life.