Abnormal Puberty in females

Question 1

Initiation of the growth spurt is the first pubertal event in girls: The peak of the growth spurt occurs much later in puberty and results from a combination of

Answer 1

estrogen and growth hormone production

Question 2

Breast development requires the presence of_______

A functioning gonad must be present (ovary or testes); must be responsive to FSH and LH

Answer 2

estrogen

***production of FSH and LH result from a functioning hypothalamic-

pituitary axis

Question 3

Pubic/axillary hair develop in response to _____

Answer 3

dihydrotestosterone (DHT)

*DHT results following the action of 5 alpha reductase on testosterone at the level of the androgen receptor in the hair follicle

Question 4

Pubertal events may be normally present in females as early as ___years of age

The absence of secondary sex characteristic in females (breasts or pubic hair) at age ____ warrants evaluation

Answer 4

7-8

14 years

Question 5

Testosterone production is divided between adrenal gland and ovarian production

Ovarian androgen production is driven primarily by _____

Adrenal androgen production is driven primarily by ____

Answer 5

ovarian: LH
adrenal: ACTH

Question 6

Stage of pubery in females

Answer 6

Growth spurt

breast and pubic hair develop

Mnestration is final stage

Question 7

In order for menstruation to occur there must be a functioning outflow tract

Intact uterus develops in the absence of _______and functional development of the _______

Answer 7

mullerian inhibiting substance from (MIS, produced by a functioning Y chromosome)

mullerian duct system (e.g uterus, cervix, upper 1/3-2/3 of the vagina and fallopian tubes)

Question 8

Vagina develops from the urogenital sinus in the absence of MIS and must fuse, followed by ______, to join with the mullerian system

Answer 8

membrane breakdown

Question 9

i. Breasts development is ultimately the result of____ in 99% of cases,Therefore the presence or absence of breasts development is dependent on the presence or absence of a functioning hypothalamic- pituitary-gonadal axis

Hypo or hyper activity of any of the above may lead to a pathologic event

Answer 9

estrogen

Question 10

Pubic/axillary hair is dependent on the presence or absence of androgen production of testosterone that is ultimately converted by the androgen receptor to ____

thus presence or absence of pubic/axillary hair is dependent on a functional hypothalamic-pituitary-gonadal/adrenal axis

a. Hypo or hyper activity of any of the above may lead to a pathologic event

Answer 10

DHT

Question 11

An intact and functional mullerian duct system fused with, followed by membrane breakdown of the _____must be present to allow for a functional outflow tract that will allow for vaginal bleeding

Answer 11

urogenital sinus

Question 12

Defined as the occurrence of breasts, pubic/axillary hair, and/or menstruation prior to the onset of age 7-8 years

Answer 12

Precocious puberty

Question 13

Not dependent on a functional hypothalamic-pituitary axis

Typically results from tumor processes in the ovary or adrenal

gland or abnormal enzymatic processes in hormone producing organs get pubery before age 7-8

Answer 13

Gonadotropin independent precocious puberty

Question 14

Tumors that can cuase gondotropin independent precocious puberty

Answer 14

i. Granulosal, thecal, sertoli leydig cell tumors of the ovary ii. Adrenal tumors, benign and malignant

Question 15

How does Congenital adrenal hyperplasia result in precocous puberty?

Answer 15

increased pubic/axillary hair growth, clitoromegaly

1. 21 hydroxylase, 11 hydroxylase

Question 16

café O lait skin appearance, polyostotic fibrous dysplasia of the bones, estrogen production from the ovaries, hyperthyroidism

Answer 16

McCune Albright sydnrome : gonadotropin INDEpendent precocious puberty

Question 17

Aberrant activation of GDP system leading to increased enzymatic activity of multiple endocrine organs

Answer 17

McCune Albright syndrome : Gonadotropin independent precocius puberty

Question 18

Characterized by premature activation of the hypothalamic- pituitary-ovarian or adrenal axis

Usually idiopathic but the primary concern is to rule out tumor processes in the central nervous system

Answer 18

Gonadotropin dependent precocious puberty

Question 19

What are we concernced with in precocious puberty? What should we evalulate?

Answer 19

Aextremely short height due to premature fusion of their epiphyseal growth plates due to chronic exposure to estrogen and/or androgens

i. At a minimum a bone age evaluation of the epiphyseal plates in the hand should be offered

Question 20

Precocious puberty should be evaluated bc it may be dt pathologic process such as:

Answer 20

very treatable benign or malignant condition of the brain, adrenal, ovary

i. Patients may require imaging of the brain, adrenal gland or ovaries

Question 21

In precocious puberty; Endocrine evaluation is typically tailored to the type of precocious event

Breasts development:

Pubic/axillary hair development:

Menstruation:

Answer 21

Breasts development: Estrogen, FSH,

Pubic/axillary hair development: Testosterone, LH

Menstruation: Estrogen, FSH, LH,

Question 22

Delayed puberty; lack of breast devolepent from lack of estrogen may be d/t what genetic condition?

Answer 22

No ovaries
1. Turners syndrome or some genetic variant resulting in either a non-functioning X or Y chromosom

Question 23

You may see lack of breast development for non or poorly functional hypothalmic-pit axis as a resulf of:

Answer 23

Non or poorly functioning hypothalamic pituitary axis

Anorexia, bulimia CNS tumor

Question 24

Lack of testosterone likely d/t

lack of growth likely d/t

Answer 24

enZ block

low growth eval GH and IGF-1

Question 25

Causes of lack of menstration

Answer 25

Always rule out pregnancy in any female age 6-60 years with an assessment of human chorionic gonadotropin testing (HCG)

Absence of or abnormal mullerian tract system ***

Hypoactive or inactive hypothalamic-pituitary system

Question 26

Pt not menstrating, she is 20. Ruled out pregnancy. could be hypothalamic issue or mullerian tract issue, what test can you do?

Answer 26

Evaluate with imaging either ultrasound or magnetic resonance imaging

Question 27

Number one cause of death in women in US is CVD: what does estrogen do?

Question 28

Primary hormone for bresast devo is estrogen and need a functioning:

Answer 28

Hypothalmic-pitutiary-OVARIAN axis

Question 29

Primary hormone for pubic hair is testosterone and need a

Answer 29

functioning hypothalamic pituitary ADRENAL axis

Question 30

Upper 2/3 vagina from:

Lower 1/3 vagina fom:

Answer 30

mullerian

UG sius

**need to fuse and membrane undergoes apoptosis

Question 31

Need fnx ovaries for menstration; lack of ovarian steroid production may be from:

Answer 31

abscence or dysgenesis, abnrmal receptors, abnromal steroid production

*need normal hypothalamic PITUIRARY axis

Question 32

Pt not ovulating: all normal endocrien function and normal estrogen production, what would be liekly cause

Answer 32

chronic anovulation

Question 33

Pt not haveing period. YOu find her estrogen produciton to be LOW, what do you look at next?

Answer 33

Look at FSH:

High: ovarian fail

Low: get MRI of pituiitary