Lecture 93 - Peds Endo Flashcards
what is the main mediator of growth inutero
meditor of growth post natal
insulin
Growth hormone
what is an environtal cause for abd tall stature as a child
obesity
5 syndormes associated with abn tall stature in children
® Klinefelter Syndrome -- XXY Marfans Beckwith Wiedmann Syndrome Soto's Syndrome ® Weaver's Syndrome --
what is Beckwith Wiedmann Syndrome
Wilm’s tumor, Macroglossia, Organomegaly, Macrosomia,
who should be evalulated for short stature in children?
patient is crossing percentiles, below 3rd percentile, outside of genetic expectations (>2 STD), child/family is concerned
karyotype of Turner syndrome -
what other important gene is also impicated
clinical featurse
Turner Syndrome – Chromosomes: 45X;
– Webbing of the neck, wide nipples, lymphedema
– SHOX is also implicated
what is SHOX?
assocaitd with what causes of shortness?
SHOX = Short Stature Homeobox Gene
Turner syndrome
Idiopathic short stature
Other causes of short statures
Endocrine – hypothyroid, GH def, GH rsistance,
Small for gestational Age
Prader willin
Short stature inteventions
® Treat underyling cause of the short stature
Medical: GH
® Other Medical Therapies to delay puberty and closure of growth plates
what significes onset of puberty in boys and girls
boys -testicular enlargement
Girls – breast buds, with menarch
threshold of age for dx of delayed puberty?
13 yo
ddx of delayed puberty in girls
Turners Gonadal failure Pituitary hypothalamsu Adrongen Insensitivity syndrome --
Constitutional delay –late bloomer
ddx of delayed puberty in boys
late bloomer Gonadal failire (Klinefetlers, Cryptorchidism, XY gonadal dysgenes)
Pitutiary
Hypothalamus
treatment of dleayed puberty boys vs grils
□ Girls – low dose estrogen, then increase dose, then add cyclin progesterone
□ Boys – Low dose testosterone, increase dose overtime
what is true central Precocious puberty?
more common in which sex?
Gonadotropin Dependent;
Girls – Breast and Pubic Hair
Boys – Testicular growth and pubic hair
what is peripheral precocious puberty?
gonadotropin Independent
Girls – causes of precocious puberty
Exogenous steroids
Ovarian cyst,
ectropic estrogen, hypothyroidism, non classic CAH
Triad of symptoms of Mccune Albright Syndrome
-
◊ Triad: Ovarian hypersecretion, Polyostotic Fibrous Dysplasia of bone, and “Coast of Maine” Café au Lait Spots (doesn’t cross midline)
how does primary hypothyroid cause PP in girls?
If Primary — TSH is elevated. TSH has same subunit as FSH and may appear to ovaries as FSH and trigger estrogen secretion
etiologies of PP in boys?
Testicular Hypersecretion
exogenous/topical testosterone,
Tumor of testical or adrenal gland, McCune Albright Syndrome, Ectopic Tumor
treatment of Central PP
GNRH Agonists – stops the pulsing by overwhelming the receptor
Leuprolide Depot
Histrelin
treatment of Peripheral PP
® Aromatase Inhibitors –
® Ketoconazole
® Spironolactone
® Estrogen Receptor Blockers
Mneumonic for digeorge syndrome endocrine and non endocrime manifestations
(CATCH 22)
(CATCH 22)
◊ Cardiac Abnormalities ◊ Abnormal Facies ◊ Thymic Aplasia ◊ Cleft Palate ◊ HypoPTH/HypoCalcemia ◊ 22q Deletion on Chr 22
