Abnormal Puberty in females Flashcards
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
estrogen and growth hormone production
Breast development requires the presence of_______
A functioning gonad must be present (ovary or testes); must be responsive to FSH and LH
estrogen
***production of FSH and LH result from a functioning hypothalamic-
pituitary axis
Pubic/axillary hair develop in response to _____
dihydrotestosterone (DHT)
*DHT results following the action of 5 alpha reductase on testosterone at the level of the androgen receptor in the hair follicle
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
7-8
14 years
Testosterone production is divided between adrenal gland and ovarian production
Ovarian androgen production is driven primarily by _____
Adrenal androgen production is driven primarily by ____
ovarian: LH
adrenal: ACTH
Stage of pubery in females
Growth spurt
breast and pubic hair develop
Mnestration is final stage
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 _______
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)
Vagina develops from the urogenital sinus in the absence of MIS and must fuse, followed by ______, to join with the mullerian system
membrane breakdown
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
estrogen
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
DHT
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
urogenital sinus
Defined as the occurrence of breasts, pubic/axillary hair, and/or menstruation prior to the onset of age 7-8 years
Precocious puberty
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
Gonadotropin independent precocious puberty
Tumors that can cuase gondotropin independent precocious puberty
i. Granulosal, thecal, sertoli leydig cell tumors of the ovary ii. Adrenal tumors, benign and malignant
How does Congenital adrenal hyperplasia result in precocous puberty?
increased pubic/axillary hair growth, clitoromegaly
- 21 hydroxylase, 11 hydroxylase
café O lait skin appearance, polyostotic fibrous dysplasia of the bones, estrogen production from the ovaries, hyperthyroidism
McCune Albright sydnrome : gonadotropin INDEpendent precocious puberty
Aberrant activation of GDP system leading to increased enzymatic activity of multiple endocrine organs
McCune Albright syndrome : Gonadotropin independent precocius puberty
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
Gonadotropin dependent precocious puberty
What are we concernced with in precocious puberty? What should we evalulate?
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
Precocious puberty should be evaluated bc it may be dt pathologic process such as:
very treatable benign or malignant condition of the brain, adrenal, ovary
i. Patients may require imaging of the brain, adrenal gland or ovaries
In precocious puberty; Endocrine evaluation is typically tailored to the type of precocious event
Breasts development:
Pubic/axillary hair development:
Menstruation:
Breasts development: Estrogen, FSH,
Pubic/axillary hair development: Testosterone, LH
Menstruation: Estrogen, FSH, LH,
Delayed puberty; lack of breast devolepent from lack of estrogen may be d/t what genetic condition?
No ovaries
1. Turners syndrome or some genetic variant resulting in either a non-functioning X or Y chromosom
You may see lack of breast development for non or poorly functional hypothalmic-pit axis as a resulf of:
Non or poorly functioning hypothalamic pituitary axis
Anorexia, bulimia CNS tumor
Lack of testosterone likely d/t
lack of growth likely d/t
enZ block
low growth eval GH and IGF-1
Causes of lack of menstration
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
Pt not menstrating, she is 20. Ruled out pregnancy. could be hypothalamic issue or mullerian tract issue, what test can you do?
Evaluate with imaging either ultrasound or magnetic resonance imaging
Number one cause of death in women in US is CVD: what does estrogen do?
Primary hormone for bresast devo is estrogen and need a functioning:
Hypothalmic-pitutiary-OVARIAN axis
Primary hormone for pubic hair is testosterone and need a
functioning hypothalamic pituitary ADRENAL axis
Upper 2/3 vagina from:
Lower 1/3 vagina fom:
mullerian
UG sius
**need to fuse and membrane undergoes apoptosis
Need fnx ovaries for menstration; lack of ovarian steroid production may be from:
abscence or dysgenesis, abnrmal receptors, abnromal steroid production
*need normal hypothalamic PITUIRARY axis
Pt not ovulating: all normal endocrien function and normal estrogen production, what would be liekly cause
chronic anovulation
Pt not haveing period. YOu find her estrogen produciton to be LOW, what do you look at next?
Look at FSH:
High: ovarian fail
Low: get MRI of pituiitary
