Repro - 1-29 - Puberty In Females - Normal, Accel, Delayed.

Front 1

Changes seen with female puberty

Back 1

First change is inc in growth vel

Then thelarche (breast budding - ages 9-11)

Then adrenarche (pubic hair)

Then closure of epiphyses and deceleration of growth - this is accompanied by menarche.

Front 2

AA girls

Back 2

Adrenarche often precedes thelarche.

Both breast and pubic hair devo occurs earlier in them too.

Front 3

First menstrual period

Back 3

Caucasians - 12.8 years

AA - 12.16 years.

Front 4

Male maturation

Back 4

FIrst event in increase in size of testes (this is unlike girls, where it is a somatic change of increased growth vel) - Due to FSH stimulation

The LH stimulation to make androgens and thus growth vel will increase and penile maturation is seen.

Front 5

Technical terms for pubertal delay for males and females

Back 5

Absence of thelarche by age 13 for girls.

Absence of changes in testicular growth by age 13.5

Front 6

Why are there more causes for ovarian failure than testicular failure?

Back 6

For females, if the germ cell is lost, so are the surrounding granulosa cells which makes the sex steroids. So if you lose germ cells, you also lose sex hormone production.

But in males, germ cell loss is independent of steroid-producing Leydig cells so there are men with azoospermia and normal androgen production to trigger puberty.

Front 7

Absence of pubic hair suggests (3):

Back 7

androgen steroidogenesis is abnormal (e.g. 17-hydroxylase def)

hypopituitarism exists - most common

androgen receptor defect
---

(in females with normal mullerian system - think of pituitary failure first!!!)

Front 8

Pts with eugonadal function

Back 8

They initiated puberty normally, but then presented with delayed menarche.

Many have abnormalities of mullerian system.

Front 9

Table on page 4 of notes

Back 9

is good

Front 10

Turner syndrome

Back 10

Most common cause of primary ovarian failure (hypergonadotropic hypogonadism)

45,X or mosaic with 46 chrom (XX or XY)

Premature loss of germ cells from ovaries because both X chrom are needed to prevent this.

Streak gonads because all that is left of ovary is CT (all germ cells are gone) - if there is a Y cell line in this, need to remove them to prev malignancy.

Front 11

Complications of Turner syndrome

Back 11

High arched palate, low hair line, webbed neck, short (less than 63 inches height), horseshoe kidney, autoimmunity (Hashimoto's or diabetes)

Also coarctation of the aorta. So in pts receiving donated oocytes to get pregnant, be careful bc pregnancy makes the aorta more likely to rupture.

Front 12

Other causes of hypergonadotropic hypogonadism

Back 12

Genetic disorders - most common are fragile X gene premutations.

Infiltrative diseases, viruses, mumps, radiation, chemotherapy,

autoimmune (most common cause of premature primary ovarian failure in women with 46, XX) - will also have inc risk of things like Hashimoto's, hypoparathyroidism, and adrenal insuff. Also pernicious anemia.

46, XY gonadal dysgenesis

Front 13

46, XY gonadal dysgenesis

Back 13

Mutations in SRY resulting in germ cells at cortical region of the undiff gonad and no MIH or androgens.

Germ cell loss is complete before birth.

This is sweyer syndrome - An XY person with no functional gonads and a female phenotyoe of normal vagina, uterus, and fallopian tubes.

Elevated gonadotropin levels.

Often tall bc of Y chrom.

Front 14

Constitutional delay

Back 14

Hypergonadotropic hypogonadism.

Not really all that common. So don't falsely reassure pts that their delayed puberty is no big deal.

Low gonadotropin levels. If given GnRH though, they get a pubertal response of greater release of LH than FSH. So puberty is actually at a very early stage.

Front 15

Congen abnormalities causing hypergonadotropic hypogonadism.

Back 15

Deficiency of GnRH
Includes Kallmann syndrome - mutation in x-linked KAL1 gene where GnRH neurons can't migrate from olfactory placode to medial basal hypothalamus. Pts have hypogonadism, hyposmia/anosmia (can't smell), facial defects, renal agenesis.
GnRH receptor genes

Congen hypopituitarism, Prader-Willi, Laurence-Moon, Bidel-Bardet syndromes.

Front 16

Acquired causes of hypogonadotropic hypogonadism.

Back 16

Endocrine disorders (hypothyroid, CAH, Cushing)

Pituitary tumors

Craniopharyngioma - Destroys pituit and subsellar regions. Can also be indolent though. Easily IDed.

Prolactinoma (more common than craniopharyngioma)
&
More estrogen (increase mRNA of prolactiin)
Dopamine agonists can help with these 2.

Front 17

Systemic causes of hypergonadotropic hypogonadism.

Back 17

hypoxemic heart disease, malabsorption bowel disease (most common), diabetes, rheum arth,

eating disorders (suppresses GnRH back to a prepubertal state).

Radiation therapy to head.

Front 18

Causes of eugonadism - anatomical

Back 18

Congen absence of uterus and vag - no fusion of the two mullerian anlagens. Pelvis contains uterine remnants and normal fallopian tubes and ovaries.
Unilat renal agenesis is common, so is scoliosis.
THESE PTS WILL NEVER HAVE NORMAL MENSTRUAL FUNCTION

Imperforate hyman or transverse vaginal septum - menstral effluvia backs up to the upper vagina (hematocolpos) or uterus (hematometra).

Front 19

Causes of eugonadism - chronic anovulation

Back 19

PCOS - normal FSH stim and unopposed estrogen prod. Long episodes of unopopsed estrogen then amenorrhea then unstable endometrium that breaks down.
Inc risk of endometrial hyperplasia and CA.
Tx - insulin sensitizing agents.

Hypothal supp, hypothyroidism, hyperprolactinemia, adult onset CAH - shuts down GnRH and produces unopposed estrogen.

Front 20

Causes of eugonadism - disorders of sexual devo

Back 20

Androgen insensitivity - 46XY. Can't convert testosterone signal so they have female phenotype with blind pouch, conversion to estrogen to make breasts develop. No pubic hair. Tall. Risk of malignancy of gonads.

Front 21

3 most common causes of delayed puberty

Back 21

Ovarian failure

Congen absence of uterus and vagina

Constit delay of puberty.