Disorders of Puberty Flashcards
Precocious Puberty
When to Eval
Girls with breast development
and/or pubic hair development
before age 7 (white) or age 6
(African-American)
OR Unusually rapid progression of puberty resulting in bone > 2 years ahead and a predicted height 2. New CNS findings (headaches, seizures, or focal neurological deficit) or 3. Behavior-based factors suggesting they or their family are affected adversely
Work up for Precocious Puberty
History: Chronology, CNS symptoms, Trauma
HT/WT (tell if real pp) Tanner stages Abd exam Neuro exam Pelvic exam
Blood -FSH, LH, hCG, TSH, DHEA-S Bone age Ultrasound abdomen/pelvis CT scan/MRI
Causes of Precocious Puberty
Tumors Infections Increased intracranial pressure Trauma Irradiation Ovary – rare only 3% Granulosa theca cell – 60% Adrenal – exceedingly rare
How do you Treat Precocious Puberty
Idiopathic – GnRH agonist (prior to 6) Tumors – surgical Thyroid or Adrenal disease – hormones McCune Albright – aromatase inhibitors
Delayed Puberty Definition
No sexual development by age 13 No menses by age 15 No menses five years after breast development—if breast budding began prior to age 10
What is your differential diagnosis in
general for a patient with a blind ending
vagina?
Mayer-Rokitansky-Kuster-Hauser
Syndrome
Transverse vaginal septum
Androgen insensitivity syndrome
What are the embryologic features of
Mayer-Rokitansky-Kuster-Hauser
Syndrome?
Arrest of the caudal portion of the Mullerian
(paramesonephric) ducts:
The cephalic portions give normal fallopian
tubes
The caudal portion should form the uterus,
cervix, and upper vagina – they will always
have an absent vagina, may/may not have a
uterus
How do you confirm her diagnosis of
Mayer-Rokitansky-Kuster-Hauser
Syndrome?
Ultrasound or MRI to document absence of uterus, presence of tubes and ovaries, could even do laparoscopy, Testosterone –normal female levels, Genotype to confirm 46 XX IVP as there is an increased risk of associated urologic abnormalities X-ray spine films as 10% have skeletal abnormalities
ddx for extra hair
PCOS Ovarian or adrenal androgen secreting tumor Congenital adrenal hyperplasia Constitutional Medication side effect (danzol, valproic acid)
Hirsutism vs Virilization
Virilization Deepening of voice Temporal balding Acne, acanthosis nigricans Facial hair – severe Midline hair (chest, abdomen, arms) Clitoromegaly
Initial Work-up for Hirsutisum
TSH, prolactin, Testosterone,
DHEAS, lipids, insulin
17 OHP
Treating Hirsutisum in PCOS
Non-pharmacologic Waxing Laser Electrolysis Pharmacologic OCPs Spironolactone Vaniqua
Transverse vaginal septum vs. Imperforate Hymen
Imperforate hymen will have hymen and a
vaginal bulge with pelvic pain and
hematocolpos;
Whereas transverse vaginal septum typically
will not have a vaginal bulge and may have
hematometrium in addition to their pelvic pain
and hematocolpos
Work-up for ambiguous genitalia
Electrolytes to rule out life threatening salt wasting CAH Karotype Hormones [are there too much androgens (if female) vs not enough (if male)]: Testosterone Adrenal precursor enzymes 17 OH-progesterone 17 OH-pregnolone DHEAS 11-deoxycortisol
Hypogonadotropic
Hypogonadism
CNS disorder Isolated FSH/LH deficiency Kallmann’s Hypothyroid Anorexia Exercise-induced
