Endocrine

Question 1

The reason we screen for this condition in newborns is because it impacts IQ if missed or delayed

Answer 1

Neonatal hypothyroidism

Question 1

onset of puberty before the age of 9 years in males and before the age of 8 in females. Presence of breast development in girls or testicular enlargement in boys.

Answer 1

precocious puberty

Question 2

Inborn errors of metabolism

Answer 2

try to get screening labs before giving glucose
CMP, Lactate, Ammonia, Plasma A.A
Urine and lipid assay– to look for fatty acids

Question 3

PCOS

Answer 3

YOU MAY OR MAY NOT HAVE METABOLIC SYNDROME

Question 4

Precocious puberty

Answer 4

Girls>Boys
Height potential dictates treatment aggressiveness (bone age)
vs. Premature adrenarche (presence of pubic hair ) (blacks> whites)

Question 5

Definition: absence of breast budding by age 13 in females or lack of testicular enlargement by age 14 in males as well as arrest in pubertal maturation

Answer 5

Delayed puberty

Question 6

Osteogenesis Imperfecta

Answer 6

Genetic disorder primarily affecting the bones.
4 types
–Type I (mild nondeforming OI): usually normal stature, fracture frequency is variable, and usually lessens after puberty. No bowing of long bones. Blue sclerae are frequent. Hearing loss is frequent, but hearing loss onset before adulthood is uncommon.

Type II (perinatally lethal OI): death in perinatal period due to pulmonary hypoplasia; intrauterine fractures, shortened long bones, and blue sclerae common –

Type III (progressively deforming OI): severely shortened stature, severe deformities of long bones, prevalent vertebral fractures, scoliosis, chest deformities; characteristic triangular face –
Type IV (common variable OI): DI common, short stature, bowing of long bones, vertebral fractures, scoliosis, and joint laxity. Patients are usually ambulatory.

Question 7

Neurofibromatosis I

Answer 7

is diagnosed based on the presence of any two of the following
–Six or more café au lait spots, at least 1.5 cm in diameter in postpubertal individuals or 0.5 cm in diameter in prepubertal individuals –Inguinal or axillary freckling –Two or more cutaneous neurofibromas or one plexiform neurofibroma –Two or more iris Lisch nodules –Optic nerve glioma –Osseous lesions, including sphenoid wing dysplasia, dysplasia of a long bone (most commonly tibia) –A 1st-degree relative (parent, sibling, or offspring) with NF-1

Question 8

Neurofibromatosis II

Answer 8

It is a rare, distinct autosomal dominant tumor suppressor gene disorder characterized by bilateral vestibular schwannomas (acoustic neuromas) and schwannomas of cranial and peripheral nerves, meningiomas, and ependymomas.