Delayed and precocious puberty
What mineral is important during puberty:
*half total body calcium laid down during puberty. Note: calcium supplementation during adolescence results in increase bone density
What is the growth potential after menarche?
*limited growth potential after menarche 4-6 cm Note: Average girl reaches growth peak 2 years after breast budding and one year prior to menarche - KNOW THIS
What is a mnemonic for the phases of puberty / sexual development in girls:
-- Boobs, pubes, grow and flow. (In medical lingo that's thelarche, adrenarche, growth spurt, and menarche.) -- Also GRaB PAM: Breasts (thelarche), pubarche, adrenarche, menarche
What congenital CNS lesions can cause precocious puberty?
-- Congenital CNS lesions Hypothalamic Hamartoma: para- or intrahypothalamic. No growth or metastasis. -- Optic Gliomas Note: do MRI
What is the Role of Total Body Fat in Timing of Puberty (leptin)
-- Critical body weight must be reached to achieve menarche. Note: Leptin *proposed hormone responsible for initiation and progression of puberty *produced by adipocytes *serum leptin concentration correlated to body fat content
Signs of secondary sexual charcteristics before what age is abnormal, In females? in males? **
-- Female < 8y/o -- Male < 9.5 Note: Typically occurs between 8 and 13 years of age Note: 2.5 SD earlier than normal is pre-cocious
What is the work up for delay in puberty:
-- History/Physical (growth records) -- Labs: LH, FSH, DHEAS, Sex Steriods, TSH, Prolactin -- Bone Age -- Imaging Studies of brain/abdomen
What is the Most common cause of Isolated Premature Menarche
-- Most common: functional ovarian cyst Note: Vaginal bleeding at inappropriate time in absence of other secondary sex characteristics Consider: tumor, trauma, foreign body, abuse, infection
When, on average does thelarche happen wrt menarche? ***
-- On avg. thelarche precedes menarche by 3 yrs. Note: with menarche ~12.8 --> thelarche ~9.8y/o
What are you thinking about: autosomal dominant, assoc with mucocutaneous pigmentation, GI polyps, and sex cord tumors (multifocal and bilateral: granulosa or Sertoli cell tumors), at risk for colon, stomach, small intestine, breast, and pancreatic cancer
-- Peutz-Jeghers Peutz-Jeghers: - they like to ask Qs about this * GI polyps * Sex chord tumors * Colon stomach, small intestine and panc cancers increase.
What is Precocious Puberty Pseudopuberty
-- Premature thelarche -- Premature adrenarch -- Premature menarche No treatment is indicated Isolated pubertal development Diagnosis of exclusion and prolonged follow up maybe necessary to ensure this is not the initial sign of true precocity Follow closely b/c you can get isolated development and it doesn't mean anything - if isolated just follow; don't do a biopsy and destroy normal breast in a 2 year old when nothing is actually wrong.
Pituitary FSH-B mutations cause what issues?
-- absent breast development and amenorrhea -- (FSH low LH high)
What is delayed puberty:
-- age 13 without secondary sexual characteristics or -- age 15 with secondary sexual characteristics (Boys age 14 without testicular enlargement)
What is tanner stage 5:
-- areola recesses -- adult pubic hair in quantity and distribution
What is tanner stage 4:
-- areola sticks out from breast -- adult pubic hair on mons only
What is tanner stage 3:
-- breasts grow some -- more pubic hair
What is precocious puberty:
-- development of secondary sexual characteristics prior to: * age 8 in girls * and 9.5 in boys
Define gonadarche:
-- growth and maturation of the gonad. -- Associated with increased sex steroid production and spermatogenesis/folliculogenesis
Pituitary LH-B mutations cause what issues?
-- in girls assoc with subfertility, -- lower hz of PCOS, delayed breast Ca
What drugs cause gynecomastia:
-- marijuana, -- isoniazid, -- spironolactone, -- ketoconazole, -- cimetidine
Define Adrenarche:
-- maturation of adrenal cortex -- with increased production of adrenal androgens (DHEAS, Androstendione).
What is tanners stage 2:
-- small breast mound -- sparse pubic hair
What is the median age of menarche? **
12.8
What acquired CNS lesions can cause precocious puberty?
Acquired CNS disorders Post inflammatory, Post XRT, abscess, hydrocephalus, trauma, tumor Note: do MRI
What is Isosexual precocious puberty:
Isosexual-development of sexual characteristics appropriate for gender
What are you thinking? anosmia with no sexual development Undernutrition/Chronic Illness/Extreme Exercise GnRH Dependent Hypogonadotropic Hypogonadism
Kallmann's Note: Kallmann's: anosmia - they like to ask about this. Undernutrition/Chronic Illness/Extreme Exercise: eating disorders etc. , stress fractures, extreme exercise; Hypogonadotropic (no LH FSH) Hypogonadism
What are you thinking: Polyosthotic fibrous dysplasia (bone cysts /bony fibrous dysplasia, ) Irregular cutaneous pigmentation (café au lait spots, Precocious puberty Autonomous early production of estrogen by the ovaries, low FSH/LH G-protein-cAMP-kinase defect Gene mutation leads to gain of function of G protein with constitutive activation of endocrine glands Treatment: Aromatase inhibitors (Antiestrogens) or antitestosterones in males Bisphosphonate therapy may benefit bone dz
McCune-Albright Syndrome (5% of all cases of precocity) GnRH Independent Always on exams. * Bony cysts * Café au lait * Precocious puberty.
Do gonadarche and Adrenarche always happen together?
NO THESE EVENTS ARE INDEPENDENT Note: Those 2 events totally random - can have isolated adrenarche and gonad development proceeds at normal rate.
What is considered precocious puberty wrt menarche: **
Onset of menarche prior to age 10
When is advanced skeletal age considered abnormal?
Advanced skeletal age = 2 years greater than chronological age is abnormal
How does the timing of puberty differ in african americans
African americans earlier by about a year. Less melanin delays the onset of pubertal development.
When is premature adrenarche: for girls? for boys?
Premature Adrenarche: prior to age 8 in girls (9.5 in boys), pubarche, axillary hair, and apocrine odor (but appropriate skeletal maturation) Note: Associated with increased body wt, insulin resistance, dyslipidemia.DDX PCOS.
What can you use to determine GnRH pulsatility:
Really important to look at LH (correlates to GnRH pulsatility)
What are you thinking: characterized by mucocutaneous candidiasis, hyperparathyroidism, and adrenal insuff (APS-1 due to mutation of AIRE gene) Assoc with autoantibodies to steroidogenic enzymes APS-2: DM, chronic lymphocytic thyroiditis, vitligo, and pernicious anemia Unexplained infertility (antibodies may precede FSH elevation)
Autosomal-recessive type I autoimmune polyglandular syndrome Gonadal Causes of delayed puberty: Auto-Immune Ovarian Failure
What are you thinking: autosomal recessive 3 different enzymes (GALK, GALT, GALE), FSH signal transduction is impaired
Galactosemia: a gonadal cause of pubertal delay.
When is it considered delayed puberty: for girls? For boys?
Girls: no thelarche by 13; no menarche by 15 Boys: No testicular volumetric increase by 14 Note: Measure length in the testis 2.4 cm start to see development.
What is central / true precocious puberty?
GnRH dependent = central = true Premature activation of the axis Sequence of development typically normal just occurs earlier Note: girls usu ideopathic; boys usu CNS lesion Note: *Central PP: HPO will have LH in response to GnRH stim *Noncentral PP: HPO will have FSH in response to GnRH stim Note: Treat with GnRH agonists to halt progression of puberty this is to allow for emotional development and preserve adult height.
What is peripheral = pseudo precocious puberty?
GnRH independent = peripheral = pseudo Note: Exogenous sex steroids Endogenous production of steroids Ovarian Cysts: granulosa cell tumor most common. Ovarian Neoplasms Feminizing adrenal tumors McCune-Albright Syndrome Thyroid Dysfunction (primary hypothyroidism) Note: *Central PP: HPO will have LH in response to GnRH stim *Noncentral PP: HPO will have FSH in response to GnRH stim
What intervention for Turner syndrome helps them grow to a normal height?
Growth hormone to help achieve normal height - can usu get them around 5 foot with a combination.
What is Heterosexual/Contrasexual precocious puberty:
Heterosexual/Contrasexual-development of sexual characteristics inappropriate for gender e.g. virilization in a female.
What is the most serious side effect of abnormal pubertal development:
The most serious side effect is short adult stature
What is the typical age range for Isolated Premature Thelarche
Typically between 9 - 18 months of age Unilateral or bilateral Note: LH concentrations normal (nl GnRH stim response) normal growth velocity Usually regresses spontaneously, Important not to biopsy permanent damage Serial follow up
What are the ages that puberty typically occurs:
Typically occurs between 8 and 13 years of age
When does the Maximum growth spurt (PEAK GROWTH) occur? ***
occurs about 2 years after thelarche and 1 yr prior to menses
What is tanner stage 1:
prepubertal