Study your flashcards anywhere!

Download the official Cram app for free >

  • Shuffle
    Toggle On
    Toggle Off
  • Alphabetize
    Toggle On
    Toggle Off
  • Front First
    Toggle On
    Toggle Off
  • Both Sides
    Toggle On
    Toggle Off
  • Read
    Toggle On
    Toggle Off

How to study your flashcards.

Right/Left arrow keys: Navigate between flashcards.right arrow keyleft arrow key

Up/Down arrow keys: Flip the card between the front and back.down keyup key

H key: Show hint (3rd side).h key

A key: Read text to speech.a key


Play button


Play button




Click to flip

57 Cards in this Set

  • Front
  • Back
2 types of abnormal puberty:
Precocious puberty

Delayed puberty
Puberty : Definitions--
*The process of physical changes by which a child's body matures into an adult body capable of sexual reproduction to enable fertilization.

*The period of becoming first capable of reproducing sexually marked by maturing of the genital organs, development of 2˚ sex characteristics, and in the human by the first occurrence of menstruation in the female.
Thelarche: breast development in females
Gynecomastia: breast development in males
Menarche: first onset of menses
Amenorrhea: absence of menses
Spermarche: first appearance of sperm
Pubarche: pubic hair development

Adrenarche: secretion of adrenal androgens by adrenal cortex; Dehydroepiandrosterone (DHEA) and it’s sulfate DHEAS – weak androgens

Gonadarche: secretion of gonadal sex steroids (testosterone and estrogen)
HPG axis role in puberty:
GnRH--> gonadotrope --> LH/FSH --> gonads
GnRH--> gonadotrope --> LH/FSH --> gonads
Gonadotropin action on the gonads:
androstendione gets converted to Estradiol
Action of testosterone:
Action of testosterone:
*Prenatal differentiation of wolfian ducts and external genitalia (IF 5α reductase is present)
*Development of male secondary characteristics (male hair distribution, penile growth, laryngeal enlargement, ↑ muscle mass)
*Causes pubertal growth spurt
*Maintains spermatogenesis in sertoli cells (paracrine effect)
↑ size and secretory activity of epidymis, vas deferens, prostate and seminal vesicles
↑ libido
Action of estrogen:
*Maturation and maintenance of fallopian tubes, uterus, cervix and vagina
*Development of female secondary sexual characteristics
*Breast development
*Maintains pregnancy
Pubertal timing (ages):
outside of 2 SDs is abnormal--precocious or delayed
outside of 2 SDs is abnormal--precocious or delayed
Normal Puberty: mean ages
*Breast development/thelarche: 10.5 yrs

*First menses/menarche: 12.9 yrs White girls; 12.2 yrs African American

*Testicular enlargement: 11.5 yrs

*Peak growth velocity: 12 yrs girls boys 13.5 to 14 yrs
Tanner Stages: Girls:
1: Pre-pubertal
2: Breast bud
3: Further enlargement
4: Areola and papilla  -  secondary mound
5: Adult
1: Pre-pubertal
2: Breast bud
3: Further enlargement
4: Areola and papilla- secondary mound
5: Adult
Tanner staging: Pubic hair:
1: Pre-pubertal
2: Sparse hair along labia
3: Darker,coarser, curlier over junction of pubis bone
4: Adult type : no spread to medial thighs
5: Spread to medial thighs
Prader Orchidometer :  to assess testicular  volume 
 (testicular enlargement is first sign of puberty in boys).
Prader Orchidometer : to assess testicular volume
(testicular enlargement is first sign of puberty in boys).
Tanner Stage: Boys (testis and penis):
1: Pre-pubertal (<3 cc testis;<2.5 cms)
2: Testicular enlargement (~4 cc; >2.5 cms)
3: increased length
4: increased breadth and glans
5: adult
LH secretions related to Tanner stages:
Stage 2: LH at night only
Stage 3/4: day and night LH

*LH heralds onset of puberty--> needed to get DHT
Precocious puberty:
activation of the hypothalamic-pituitary gonadal axis (↑ LH, FSH, testosterone or estradiol)

elevated sex steroids from ovary or testes
(↑ testosterone or estradiol, ↓ LH, FSH)
Etiology of Central Precocious Puberty:
*Hypothalamic tumors
-Hamartomas (most common organic cause)
gliomas, astrocytomas, ependymomas

*Pituitary tumors: Craniopharyngiomas

*CNS anomalies
-Static encephalopathy (hypoxia, trauma, infection)
-Low dose irradiation

*Idiopathic: More common in girls (most common in all kids)
Etiology of Peripheral Precocious Puberty:
-discuss environmental causes, ovarian disorders, and testicular disorders:
-lavender oil, tea tree oil
-E/T creams, gels

*Ovarian disorders
-Granulosa cell tumors
-Follicular cysts
-McCune-Albright Syndrome
-Severe Hypothyroidism**

*Testicular disorders
-Familial male-limited precocious puberty
-Leydig cell tumor
-McCune-Albright Syndrome

*Don't memorize all of these*
Etiology of Peripheral Precocious Puberty:
-discuss hCG secreting tumors and Adrenal disorders:
*hCG-secreting tumors

*Adrenal disorders
-Adrenal adenoma
-Adrenal carcinoma
-Premature Adrenarche

*Don't memorize all of these*
Severe hypothyroidism effect on puberty:
-High TSH --> binding to FSH receptor (remember they have a common alpha subunit) in ovary --> increased estradiol secretion --> breast development

-TSH can also bind to receptors in testicles to stimulate inhibin and spermatogenesis
Central Precocious Puberty:
*Thelarche < 8 y.o. in girls
*Testicular enlargement < 9 years in boys.
*1/5000 to 1/10,000 children
*10-23x more common in girls than boys
Girls: Idiopathic (70-90%)
Boys: CNS lesions (60-94%)
Schematic of early puberty in females:
Schematic of early puberty in males:
Male with central precocious puberty with sixth nerve palsy secondary to intracranial astrocytoma
*Male with central precocious puberty with sixth nerve palsy secondary to intracranial astrocytoma
*Right eye is esotropic
*The kid is muscular
*Thin scrotum
*Thelarche and vaginal bleeding at 2 ½ yrs
A. At 3½ years , BA 7 yrs
B. At age 5 8/12 yrs
C. At age 8 years – BA 14 yrs
*Final adult height: 142 cms ( 56” or 4’8”)
Dx of CPP:
*GnRH level? a very short half-life of 2-5 mins and is confined in the hypothalamic-portal circulation.
*Old test: GnRH stimulation testing: gold standard (LH predominant response)

*Current test: Serum LH by ICMA test >0.3 IU/L is consistent with central puberty
McCune Albright Syndrome:
*peripheral precocious puberty, café-au-lait spots and firbous dysplasia of bones
*peripheral precocious puberty, café-au-lait spots and firbous dysplasia of bones
McCune Albright Syndrome
*McCune Albright Syndrome
*increased sex steroids
*low LH/FSH
Pathophysiology of MAS:
*Mutation in the Gsα gene that occurs early in embryogenesis ( somatic or post-zygotic)

*Results in constitutive activation of adenylyl cyclase in multiple affected tissues

*Unregulated hormone production independent of the normal stimulatory factors from the hypothalamus or pituitary gland.
*Large penis noted at 6 wks
*Pubic hair at 6-9 months
*At 18 months 
*Tanner 4 penis, 3 pubic hair, and testicular volume 3cc
husky voice
*Low LH/FSH, High testosterone
*Large penis noted at 6 wks
*Pubic hair at 6-9 months
*At 18 months
*Tanner 4 penis, 3 pubic hair, and testicular volume 3cc
husky voice
*Low LH/FSH, High testosterone
Familial Male-Limited Precocious Puberty AKA Testotoxicosis
Familial Male-Limited Precocious Puberty AKA Testotoxicosis:
-Typically at ≤ 4 years old
-Signs of puberty, rapid virilization and growth acceleration

-Frequently a positive family history of FMPP

*Low LH/FSH, High testosterone
*Penis is more advanced than testicles
*Male-only counterpart of McCune-Albright (McA happens in both sexes)...LH receptor is mutated.
Pathogenesis of testitoxicosis:
*Normal Production
LH-->Leydig cell receptor--> adenyl cyclase stimulated  testosterone

Constitutively active Leydig cell receptor--> adenyl cyclase stimulated--> testosterone
Leydig Cell Hyperplasia in testitoxicosis
Treatment for Precocious puberty:
*Central Precocious Puberty: GnRH agonist

*Tumors (testicular/ovarian): surgery, chemotheraphy

*McCune Albright Syndrome: Tamoxifen (estrogen antagonist)

*Familial male limited precocious puberty/Testotoxicosis: anti-androgen or aromatase inhibitors
Why do we use GnRH agonists to treat central precocious puberty?
*1978 study--Belchetz cut out the hypothalamus of monkeys and gave a steady concentration of GnRH --> low LH/FSH

*When he have GnRH in a pulsatile manner --> high LH/FSH

*Therefore, we give a continuous GnRH agonist to kids with CPP, which keeps LH/FSH low in them.
Treatment for CPP?
*GnRH agonist
*Treatment of choice since 1981
*Continuous administration suppresses FSH and LH levels and inhibits gonadal activity (by a desensitization mechanism).
Example of GnRH agonists we use?
-In the U.S., Leuprorelin (Lupron) and Histrelin
Dosages and costs of GnRH agonist treatment?
histrelin is a continuous subdermal med--no shots; implant lasts about a year. Maybe longer.
Delayed puberty definition:
*Absence of thelarche (breast bud) at 13 yrs of age in girls

*Absence of testicular enlargement at 14 yrs of age in boys
Classification of delayed puberty:
*Constitutional delay in growth and puberty (CDGP)
*Hypogonadotropic hypogonadism
*Hypergonadotropic hypogonadism
*Genetic defects of the Hypothalamic-pituitary axis
Differential diagnosis of delayed puberty:
hypergonadotropic--no negative feedback AKA 1˚ gonadal failure

hypogonadotropic AKA 2˚ gonadal failure
Schematic of the hypothalamic-pituitary-gonadal axis in a normal patient and in the setting of primary and secondary hypogonadism:
*Delay in onset of puberty
*Usually shorter than peers
*NORMAL growth velocity
*Positive family history of pubertal delay in a parent

*Adrenarche (pubic hair) is characteristically delayed along with gonadarche (breast bud/testicular enlargement)

*TREATMENT: Reassurance or short course of testosterone enanthate or cypionate--> 2˚ sex traits.
Define Hypogonadotropic hypogonadism:
Absent or decreased ability of the hypothalamus to secrete GnRH or the pituitary gland to secrete LH and FSH
Causes of Hypogonadotropic hypogonadism:
*CNS disorders:
-Tumors (CRANIOPHARYNGIOMA ): most common
-Acquired CNS d/o: TB, sarcoid, trauma
-Congenital disorders: Septo-optic dysplasia (absent septum pellucidum)
-Irradiation: e.g. ( CNS leukemia requiring 18-Gy dose radiation

*Genetic defects of the hypothalamic-pituitary axis
A. Isolated gonadotropin deficiency: Kallmann’s syndrome
B. Multiple pituitary hormone deficiency
C. Miscellaneous: Prader-Willi syndrome, chronic disease, anorexia nervosa, hypothyroidism
Why can hypothyroidism cause hypogonadotropic hypogonadism?

How can it also lead to precocious puberty?
*TRH and TSH levels will rise; thus raising PRL levels, which suppress LH/FSH.

*High TSH can cross react and stimulate the LH/FSH receptors in the ovary/testicle (alpha subunit)
3 labs to get when someone presents with delayed penile growth (case was a 20 year old with 3.5cm penis and 2cc testes)
*Turns out case guy had a FGFR1 mutation
Genes involved in pubertal development:
Don't need to memorize; just be aware of the mutations out there.
Hypergonadotropic hypogonadism:
implies that hypothalamic pituitary component of pubertal signalling has been activated through lack of negative feedback that is normally exerted by actions of sex steroids.

A. Klinefelter’s syndrome
B. Other forms of primary testicular failure
(chemotherapy and radiation to testicles)
C. Anorchia (no testes) or cryptorchidism (undescended)

A. Turner’s syndrome
B. Other forms of primary ovarian failure (chemotherapy, radiation to ovaries, autoimmune oophoritis)
*Seminiferous tubular dysgenesis AKA Klinefelter!!!!!!
*Some have Leydig cell problems, need testosterone replacement
Klinefelter’s syndrome:
*Most common form of primary testicular failure
*Incidence: 1:800- 1,000
*Physical exam: decreased upper:lower segment ratio, small, firm testes, developmental delay, learning disability
*Leydig cell function is less affected than seminiferous tubule function
*Aka syndrome of seminiferous tubule dysgenesis
Treatment for Klinefelter:
Treatment : Testosterone preparations: depot IM injections vs. gel (look out for that gel!)
Turner’s syndrome:
*Syndrome of gonadal dysgenesis
*45 X or mosaicism (45X, 46XX, 45X, 47XXX, etc)
*“streak gonads” – fibrous tissue without germ cells

*Features: short stature (most common), bicuspid aortic valve ( most common cardiac defect)

*No estrogen, high FSH
Turner syndrome
Physical stigmata of Turner syndrome (diagram):
Treatment for Turner syndrome:
Growth hormone for short stature
Estrogen for pubertal induction