PUBERTY
AHMED ABDULWAHAB
objective
 Recognize sexual differentiation
 Know the role of sex chromosome in sexual
differentiation .
 To know the normal phases of female puberty
 Recognize the causes of abnormal puberty
Sexual differentiation
 The embryo differentiates into female or male through
the sex chromosomes .
 Sex chromosomes XY is a male and XX is a female.
 Gonadal sex is the differentiation of either ovaries or
testes .
 Subsequent development of the internal and external
genitalia give phenotypic sex .
 In the presence of Y chromosome the undifferentiated
gonad will become a testis .
 Absence of Y chromosome will result in the
development of the ovaries .
 We need at least one X chromosome for embryo
development .
 The testis produce androgen and mullerian inhibitor
 The undifferentiated embryo contain both Wolffian and
Mullerian ducts .
 Wolffian duct will develop the male internal organs .
 Mullerian duct will develop female internal organs .
 The leydig cell produces testosterone that promotes the
development of the Wolffian duct will lead to vas
deferens, epididymis and the seminal vesicles
 Dihydrotestosterone acts on the cloaca to form the
penis and the scrotum .
 Absence of the testosterone means the wolffian duct
will regress and the cloaca will be an external female
genitalia
NORMAL PUBERTY
 It happens as the result of the maturation of the
hypothalamo pitutary ovarian axis .
 The gonadotrophin releasing hormones is produced and
the gonadotrophin FSH and LH will increase in
frequency and amplitude .
 This will lead to full establishment of the normal
ovulatory menstrual cycle .
 Puberty occurs over a period of 5 to 10 years
Physiology of puberty
 This is result in the physical changes resulting in female
adult life in these sequences .
 Growth spurts .
 Breast development .
 Pubic hair growth .
 Menarche .
 Finally axillary hair growth .
 This sequences occurs in 70% of female and variation
may happens .
 Growth spurts starts at the age of 11
 6-10 cm per year .
 By the age of 15 most girl will achieve their final height.
 Menstrual cycles in the region between 9 and 16 and
usually are irregular because of the immaturity of the
axis .
PRECOCIOUS PUBERTY
 Puberty before the age of 9 years .
 Causes.
 Idiopathic .
 MaCune Albright syndrome.
 Tumor of adrenal and ovary producing hormones.
 Cerebral tumor.
 Ingestion of exogenous estrogens.
 The commonest cause is simply is premature maturation
of hypothalamus and production of the gonadotropin
releasing hormones.
 This can be treated with gonadotropin releasing
hormones agonist GnRHa .
 But other serous causes should be excluded like brain
tumor
Delayed puberty
 Mostly patient come because of delay in the
menstruation .
 It is important to establish whether puberty itself is
delayed.
 Detailed history is taken about other secondary sexual
characters.
 Exclude chronic illness .
 Family history.
INVESTIGATIONS
 Gonadotropins level FSH and LH .
 Karyotyping .
 Pelvic ultrasound to confirm the presence of the uterus
and ovaries .
 Possibly X- ray to determine bone age.
 Other like thyroid function test prolactin and 17-alpha-
hydroxy-progesterone .
Hypogonadotropic
hypogonadism
 Majority is constitutional delay in puberty.
 May be secondary to chronic illness and improvement of
underlying condition is the treatment.
 Anorexia nervosa at young age have low levels of
gonadotrophin .
 Athletic girls .
 Congenital deficiency of gonadotropin with hypoplasia
of olfactory lobe Kallman syndrome
 Acquired damage to hypothalamus and pituitary by
tumor, trauma ,infection , radiation , secondary to
hydrocephalus and hemochromatosis due to repeated
transfusion in sickle cell disease , thalassemia and
willson disease .
 In all cases the ultrasound will confirm the immature
uterus and small inactive ovaries,
 Most girls with constitutional delay will proceed to
normal development if left untreated.
 Otherwise treatment is replacement with gonadotropin
or estrogen and progesterone .
Hypergonadotropic
hypogonadism
 Failure of gonadal development.
 No negative feed back from the gonads .
 Commonest cause is Turner syndrome 45xo .
 Damage to the ovaries by infection , irradiation,
chemotherapy, or surgery .
 Autoimmune disease such as Adison , vitiligo, and
hypothyroidism.
 Turner syndrome.
 Features.
 Wide carrying angle of the arms .
 Webbed neck .
 Broad chest and widely spaced nipples .
 May have color blindness, co-arctation of the aorta .
 Streak ovaries and may be a small uterus.
 Treatment by hormone replacement therapy estrogen
and progesterone.
 Gonadal causes carries a bad prognosis for pregnanacy .
 Anatomical causes ,
 Normal puberty but no menstrual cycle .
 Imperforate hymen or transverse vaginal septum.
 1-They present with amenorrhea ,cyclical pain and
sometime retention of urine .
 Treat with incision of the hymen or the septum .
 2- mullarian agenesis , no uterus ,fallopian tubes and
vagina.
 Exclude urinary tract anomalies.
Androgen insensitivity
syndrome
 Normal breast but scanty or absent pubic hair.
 This is due androgen insensitivity syndrome .
 The karyotype ( genotype) is XY and phenotype is a
female .
 They have testes .
 There is no uterus, fallopian tubes, and upper two third
of the vagina.
 Management .
 The patient is brought up as a female .
 Remove the testes because of the risk of malignant
transformation .
 Start hormonal replacement therapy .
 Create a vagina for satisfactory sexual intercourse .
 Abnormal uterine bleeding .
 Is common after the menarche .
 Mainly due the un-ovulatory cycles .
 In case of menorrhagia treat if it is affecting the general
condition of the patient .
 Exclude other blood diseases hemophilia and
Vonwillibrand disease .
 Oligo menorrhea reassure the patient .
 It is usually improve spontaneously with time .
Congenital adrenal hyperplasia
CAH
 Autosomal recessive .
 Mainly 21 hydroxylase deficiency
 Excessive androgen sex hormones .
 Clinical picture .
 Ambiguous genitalia.
 Either delayed or preconscious puberty .
 Excessive fascial hair .
 Virilization clitoromegaly .
 menstrual disorder .
 Infertility.
 Investigations.
 Hormonal assay .
 17-hydroxyrogesterone is high .

L17- PUBERTY.pptx. .

  • 1.
  • 2.
    objective  Recognize sexualdifferentiation  Know the role of sex chromosome in sexual differentiation .  To know the normal phases of female puberty  Recognize the causes of abnormal puberty
  • 3.
    Sexual differentiation  Theembryo differentiates into female or male through the sex chromosomes .  Sex chromosomes XY is a male and XX is a female.  Gonadal sex is the differentiation of either ovaries or testes .  Subsequent development of the internal and external genitalia give phenotypic sex .
  • 4.
     In thepresence of Y chromosome the undifferentiated gonad will become a testis .  Absence of Y chromosome will result in the development of the ovaries .  We need at least one X chromosome for embryo development .  The testis produce androgen and mullerian inhibitor
  • 5.
     The undifferentiatedembryo contain both Wolffian and Mullerian ducts .  Wolffian duct will develop the male internal organs .  Mullerian duct will develop female internal organs .  The leydig cell produces testosterone that promotes the development of the Wolffian duct will lead to vas deferens, epididymis and the seminal vesicles
  • 6.
     Dihydrotestosterone actson the cloaca to form the penis and the scrotum .  Absence of the testosterone means the wolffian duct will regress and the cloaca will be an external female genitalia
  • 7.
    NORMAL PUBERTY  Ithappens as the result of the maturation of the hypothalamo pitutary ovarian axis .  The gonadotrophin releasing hormones is produced and the gonadotrophin FSH and LH will increase in frequency and amplitude .  This will lead to full establishment of the normal ovulatory menstrual cycle .  Puberty occurs over a period of 5 to 10 years
  • 8.
    Physiology of puberty This is result in the physical changes resulting in female adult life in these sequences .  Growth spurts .  Breast development .  Pubic hair growth .  Menarche .  Finally axillary hair growth .  This sequences occurs in 70% of female and variation may happens .
  • 9.
     Growth spurtsstarts at the age of 11  6-10 cm per year .  By the age of 15 most girl will achieve their final height.  Menstrual cycles in the region between 9 and 16 and usually are irregular because of the immaturity of the axis .
  • 10.
    PRECOCIOUS PUBERTY  Pubertybefore the age of 9 years .  Causes.  Idiopathic .  MaCune Albright syndrome.  Tumor of adrenal and ovary producing hormones.  Cerebral tumor.  Ingestion of exogenous estrogens.
  • 11.
     The commonestcause is simply is premature maturation of hypothalamus and production of the gonadotropin releasing hormones.  This can be treated with gonadotropin releasing hormones agonist GnRHa .  But other serous causes should be excluded like brain tumor
  • 12.
    Delayed puberty  Mostlypatient come because of delay in the menstruation .  It is important to establish whether puberty itself is delayed.  Detailed history is taken about other secondary sexual characters.  Exclude chronic illness .  Family history.
  • 13.
    INVESTIGATIONS  Gonadotropins levelFSH and LH .  Karyotyping .  Pelvic ultrasound to confirm the presence of the uterus and ovaries .  Possibly X- ray to determine bone age.  Other like thyroid function test prolactin and 17-alpha- hydroxy-progesterone .
  • 14.
    Hypogonadotropic hypogonadism  Majority isconstitutional delay in puberty.  May be secondary to chronic illness and improvement of underlying condition is the treatment.  Anorexia nervosa at young age have low levels of gonadotrophin .  Athletic girls .  Congenital deficiency of gonadotropin with hypoplasia of olfactory lobe Kallman syndrome
  • 15.
     Acquired damageto hypothalamus and pituitary by tumor, trauma ,infection , radiation , secondary to hydrocephalus and hemochromatosis due to repeated transfusion in sickle cell disease , thalassemia and willson disease .  In all cases the ultrasound will confirm the immature uterus and small inactive ovaries,
  • 16.
     Most girlswith constitutional delay will proceed to normal development if left untreated.  Otherwise treatment is replacement with gonadotropin or estrogen and progesterone .
  • 17.
    Hypergonadotropic hypogonadism  Failure ofgonadal development.  No negative feed back from the gonads .  Commonest cause is Turner syndrome 45xo .  Damage to the ovaries by infection , irradiation, chemotherapy, or surgery .  Autoimmune disease such as Adison , vitiligo, and hypothyroidism.
  • 18.
     Turner syndrome. Features.  Wide carrying angle of the arms .  Webbed neck .  Broad chest and widely spaced nipples .  May have color blindness, co-arctation of the aorta .  Streak ovaries and may be a small uterus.
  • 19.
     Treatment byhormone replacement therapy estrogen and progesterone.  Gonadal causes carries a bad prognosis for pregnanacy .
  • 20.
     Anatomical causes,  Normal puberty but no menstrual cycle .  Imperforate hymen or transverse vaginal septum.  1-They present with amenorrhea ,cyclical pain and sometime retention of urine .  Treat with incision of the hymen or the septum .  2- mullarian agenesis , no uterus ,fallopian tubes and vagina.  Exclude urinary tract anomalies.
  • 21.
    Androgen insensitivity syndrome  Normalbreast but scanty or absent pubic hair.  This is due androgen insensitivity syndrome .  The karyotype ( genotype) is XY and phenotype is a female .  They have testes .  There is no uterus, fallopian tubes, and upper two third of the vagina.
  • 22.
     Management . The patient is brought up as a female .  Remove the testes because of the risk of malignant transformation .  Start hormonal replacement therapy .  Create a vagina for satisfactory sexual intercourse .
  • 23.
     Abnormal uterinebleeding .  Is common after the menarche .  Mainly due the un-ovulatory cycles .  In case of menorrhagia treat if it is affecting the general condition of the patient .  Exclude other blood diseases hemophilia and Vonwillibrand disease .  Oligo menorrhea reassure the patient .  It is usually improve spontaneously with time .
  • 24.
    Congenital adrenal hyperplasia CAH Autosomal recessive .  Mainly 21 hydroxylase deficiency  Excessive androgen sex hormones .
  • 25.
     Clinical picture.  Ambiguous genitalia.  Either delayed or preconscious puberty .  Excessive fascial hair .  Virilization clitoromegaly .  menstrual disorder .  Infertility.
  • 26.
     Investigations.  Hormonalassay .  17-hydroxyrogesterone is high .