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Flashcards in L93- Peds Endo Deck (31):
1

Normal growth In Utero mediated by? 

Post-natal grown mediated by?

In Utero - Insulin

Post-Natal - GH 

(GH deficient born normal and dont see problems until later on in life)

2

What are the 3 tall stature Overgrowth Syndromes and Buzzwords with each?

1) Beckwith-Wiedemann = Macroglossia, Hypoglycemia, Macrosomia

- Abdominal wall defects and Ear Creases

- Wilms Tumor

11p15

2) Sotos Syndrome = Cerebral Gigantistm - BIG HEADS! normal adult height

3) WEavver's Syndrome 

fetal and childhood overgrowth dysmorphism

3

When do you need to evaluate short kids?

Crossing percentiles or below 3rd percentile 

outside genetic expecations

4

What are some genetic diseases to consider in kids w/ short stature? 

Skeletal dysplasias

PRADER WILLI or Russel-silver, Osteogenesis imperfecta, Down syndrome, Noonan

 

MPOs

 

Inborn errors of metabolism

TURNER SYNDROME

SHOX deficiency

5

What is Turner Syndrome? Features? 

Chromosome 45 X 

Webbed neck, broad spaced nipples and increased carrying angles of arms

Low posterior hair line

Lymphedema of feet

 

SHORT and break off around puberty

6

What is PRader-Willi Syndrome? 

Deletion or Uniparental Disomy of Chromosme 15q

 

Hypotonic at birth, FTT, delayed motor skills, low muscle mass 

THEN

ages 3-4 Hyperphagia but don't grow 

Hypogonadism and developmental delay

7

Define "small for gestational Age" and what is significant about that

Birthweight or length at least 2 SD below mean for Age

Most catch up by ages 2-3 and don't have GH resistance

 

Children can be GH resistant BUT will grow in response to higher than normal doses of GH bc releated to haplotype variations in IGF1 receptor 

 

Increased risk for Insulin resistance, T2DM and obesity

8

What is LAron Dwarfism? Treatment?

GH resistance bc of receptor

 

Tx: skip a step and just give IGF1

9

What are SHOX genes? PResentation? What other conditions is it implicated in? 

Short Stature Homeobox containing genes - isoform of homeodomain TF for limb development

 

Implicated in Turner Syndrome, Idiopathic short stature, Leri-Weill Dyschondrosteosis

 

SEE MADELUNGS DEFORMITY

10

What are the clinical features of PEdiatric GH deficiency? Causes/Associations? 

 

Diagnosis and Treatment? 

Normal size at birth but growth failure after 6 months (nutrition responsible for growth before that) 

See Excessive ADiposity +/- Hypoglycemia

 

Cause: Either Idiopathic OR Multiple Putuitary hormone deficiency - seen w/ cleft palate, midline defect, craniopharyngioma etc

DX: GH STIMULATION TEST - stimulate w/ Arginine, Clonidine, Hypoglycemia and should reach > 10 GH 

 

Treatment - GH!!! 

11

What do you see in adults w/ GH deficiency? 

Increased osteoporosis

Hypercholesterolemia

poor lean body mass

Cardiac risk!!!

Poor QoL

 

GH treatment may increase risk of Cancer and Diabetes

12

Ages and staging for normal puberty? 

Girls breast buds ages 8-13 and Menarche within 5 years

Boys - testicular enlargement > 9 yo and by age 14

 

Girls can be earlier especially AA girls 

 

Tanner Staging based on breast/testicular size and pubic hair 

BONE AGE EVALUATIONS!

13

Differential Dx for delayed puberty in a girl? Which occurs at what age? 

Delayed = no onset by 13 yo

Turners

Primary Gonadal Failure - Estradiol low but LH/FSH high

Pituitary Probs

Hypothalamus problems - anorexia or Kallmans!!!

Androgen Insensitivity Syndrome 

14

Androgen Insensitivity Syndrome presentation

No uterus

Testes make testosterone but no receptors for them

sometimes breasts develop

 

15

Whats the DDX for delayed puberty in boys? 

Primary Gonadal Failure: 

- Kleinfelter syndrome 47 XXY 

- XY gonadal dysgenesis / cryptochordism

Pituitary probs

Hypothal probs- Kallman's Syndrome

16

Treatment of delayed puberty 

Treat underlying problem

start low dose E in girls then increase and start cycling

start low dose T in boys and increase over time

17

What is True Precocious Puberty? 

Premature Thelarche

Adrenarche

True PP: Gonadotropin dependent - breasts + Pubes or Testes + pubes

Thelarche - BReasts only

Adrenarche - pubes only

18

Workup that you need to do for preciocious puberty?

H&P

BONE AGE!!! determine how aggressive process is

Determine if Gonadotropin-depend or independent 

via 8 am labs or GnRH stimulation test

19

What are some causes of Central Precocious Puberty? 

10x more common in females and 85% idiopathic

Males - TUMOR RISK!!!! 20% 

CNS lesions - trauma, hypothalamic Hamartoma, cranial irradiation, Craniopharyngioma, meningitis

 

sometimes Peripheral PP can push pituitary to start central PP (ex high adrenal levels then hypothal responds) 

20

Causes of Gonadotropin-Independent Peripheral PP in girls?

Exocenous sex steroids

Ovarian Cyst

Ovarian Hypersecretion --> McCune-Albright Syndrome

Ovarian/Adrenal Tumor

Ectopic estrogen 

 

*Hypothyroidism severe

Non-classical CAH 

21

McCune Albright Syndrome - Presentation and caues 

TRIAD: Ovarian hypersecretion, Polyostotoic Fibrous Dyspasia, Coast of Main Cafe Au Lait spots (dont cross midline and has jagged edges) 

 

caused by Gs protein mutations so genes always on 

Thyroid and ovary thing that they are on without stimulation 

22

What happens in precocious puberty due to Hypothyroidism? 

ELEVATED TSH!!! -lkike ALOT

 

Subunit same as FSH to appears to ovaries like FSH and triggers secretion of Estrogen 

GIRLS ONLY

does NOT spontaneously reverse when treat hypothyroid and TSH goes down

23

What are some Gonadotropin-independent Peropheral causes of PP in boys?

non-classical CAH

Testicular Hypersecretion - Familial Male PP where LH receptors always on

Steroids exogenous

Testicular/Adrenal Tumor 

McCune Albright 

Ectopic tumor - Androgen of HCG secreting

**HEPATOBLASTOMA

24

Treatment of PP in Gonadotropin-dependent process?

GnRH Agonists to block receptors and no pulsing action (which normally release is puslatile) and stops pituitary signals

 

Leuprolide Depot - IM shot q3 months

Histrelin implant that lasts 1 year

25

Treatment of PP in Gonadotropin Independent processes? 

Aromatase inhibitors

Stoired blockers - Ketoconazole

ARBs - Spironolactone

ERBs - Tamoxifen

26

Premature Thelarche - causes? Dx?

can be idiopathic and benign in toddler girls

Ovarian Cyst/Hypersecretion

 

LOOK AT BONE AGE!!! 

27

PRemature Adrenarche - causes? 

NON-CLASSICAL CAH = higher androgens 

also see hirsuitism, acne, and altered fertility

 

 

could also be adrenal or gonadal tumor

BONE AGE!! 

28

What are the 4 disorders of sexual development we discuss? Which is most common? 

1) CAH - MOST COMMON

2) Ovotesticular DSD - both ovarian and testicular tissue - True HErmaphroditism

3) Androgen Insensitivity Syndrome - complete and partial

conmplete - female phenotype

Partial - ambiguous

4) 5-alpha reductase deficiency and T cant be converted to DHT 

- typically overcomes in puberty and then get virilization so girl becomes boy at puberty 

29

MOst common CAH? Presentation? 

21-Hydroxylase most common form of CAH 

Salt-wasting bc hypo-Aldo

Virilization of XX females 

46XX females look virilized 46XY males have typical phenotype but adrenal crisis

30

What is Thyroid Congenital Hypothyroidism? Presentation?

occurs AT BIRTH so do newborn screening

Thyroid helps cns myelination and so if dont have it then get Mental retardation

 

Large Fontanelle and Coarse features 

31

What do you see in DiGeorge's Syndrome? 

CATCH 22

Cardiac abnormalities

Abnormal Facies

Thymic Aplasia - infections

cleft Palate

Hypothyroidism/hypocalcemia 

Deletion on Chromosome 22