Mixed Endo
A short child presents with normal growth velocity, normal bone age, family history of short stature. What is the most likely diagnosis
Genetic short stature
3 etiologies of short stature of constitutional growth delay, genetic short stature, growth hormone deficiency.
Only genetic short stature presents with normal bone age
Mitochondrial inheritance comes from which parent
Mother (mtDNA)
A 1-week-old boy is brought to the office by his parents to establish primary care. The infant was born at 38 weeks gestation to a 31-year-old woman, gravida 3 para 2, via scheduled repeat cesarean delivery. The infant weighed 3.2 kg (7 lb 1 oz, 50th percentile) at birth and had an unremarkable nursery course. The infant was discharged home at age 3 days and has been breastfeeding exclusively. He is voiding and stooling normally. Yesterday, the parents were notified of an abnormal result from newborn screening. Today, the infant weighs 3.21 kg (7 lb 1 oz). Physical examination is normal. Laboratory studies reveal a T4 level of 6 µg/dL (normal: 10-22 for the first week after birth) and a TSH level of 46 µU/mL.
What is the prognosis?
Good if treated early. Most common preventable cause of intellectual disability
Was the first sign of sexual development in boys
Testicular enlargement
Male sexual development generally begins at an average of 11.6 years (range 9.5 to 13.7 years of age )
First physical sign of puberty is testicular enlargement.
Onset of puberty occur 6 months earlier for African-American boy rather than Caucasian or Hispanic boys. For boys puberty last for an average of 5 years range 3 to 6 years
A tumor has destroyed the pituitary stalk, and the patient has developed pitutary hormone deficiency. What tumor is most likely to do this?
craniopharyngioma
Name 3 branched chain amino acids
and disease associated
Valine, leucin, isoleucine
Difficulty metabolizing these, known as maple syrup urine disease leads to syrupy smelling ear wax and urine
Autosomal recessive common and Mennonite population
Newborn presents with absence of optic chiasm optic nerve hypoplasia agenesis of corpus callosum hypothalamic insufficiency
Septo optic dysplasia
What is the mean age of menarche
12.8 years of age
The mean age of menarche is 12.8 years of age
Normal ranges 9 to 16 years with Caucasian girls experiencing menarche at an average of 6 months later than Hispanic and African-American girls.
Menarche commonly occurs with sexual maturity rating Tanner stages 3-4 or 2 years after onset of breast budding
It usually occurs just after peak height velocity.
5-year-old girl has a solitary maxillary central incisor
What deficiency is likely
What skeletal defects are you most worried about in a child with mucopolysaccharidosis type I Hurler syndrome
Atlantoaxial subluxation
Skeletal growth is normal in the first year of life but severe growth restriction soon develops
A 10-year-old girl is brought to the office by her father due to concerns about her behavior and declining school performance over the last 6 months. Her teachers have said that she is constantly distracted and does not pay attention in class. The patient's grades have dropped significantly and she is failing most of her classes. In addition, she has been irritable and moody with frequent outbursts of crying recently. She takes no daily medications or supplements. Temperature is 36.7 C (98 F), blood pressure is 116/58 mm Hg, and pulse is 114/min. Weight is 27 kg (59.5 lb), decreased by 1 kg (2.2 lb) from last year. Physical examination reveals a nervous-appearing girl who is fidgeting with her clothes. The pupils are equally reactive to light. The sclera is nonicteric and visible above the iris. Cardiac examination reveals a regular rhythm and normal S1 and S2. The abdomen is soft and nontender without hepatosplenomegaly. Deep tendon reflexes are 3+ and symmetric in the upper and lower extremities. The skin is warm and moist. Without treatment, this patient is at risk of developing which of the following long-term complications?
Mitral stenosis
Osetoporosis
Stress induced hypotension
Nephropathy
This patient has behavioral changes, weight loss, lid lag, and increased cardiac output, concerning for hyperthyroidism. Graves disease (an autoimmune condition in which TSH receptor-stimulating antibodies activate the TSH receptor) is the most common etiology. Hyperstimulation of the TSH receptor causes elevated T3 and T4 levels.
Excess circulating T3 and T4 hormones result in a constellation of findings related to sympathetic overactivity. Children and adolescents with hyperthyroidism often have psychological changes, such as inattention, moodiness/irritability, and poor school performance. Other calorigenic sequelae include weight loss, tachycardia with a wide pulse pressure, hyperreflexia, and warm/sweaty skin. A diffuse goiter is often present, and patients typically have lid lag, which causes the sclera to be visible above the iris. Exophthalmos (proptosis due to extraocular muscle inflammation) is common in adults.
If hyperthyroidism remains untreated, increased adrenergic activity stimulates cardiac contractility, which can lead to arrhythmias (eg, atrial fibrillation) and dilated cardiomyopathy. Osteoporosis is a long-term complication due to elevated thyroid hormone stimulating calcium and phosphate release from bone.
Most common solid breast mass in an adolescent girl
Fibroadenoma
They tend to be on the upper outer quadrant of the breast most ranging in size from 2 to 3 cm. Simply observe asymptomatic solid breast masses are less than 3 cm. Perform excisional biopsy for persistent larger or suspicious lesions
A 26-year-old woman comes to the office for postoperative follow-up. She has Graves disease and has taken methimazole for 4 years, but due to her desire to become pregnant, she underwent total thyroidectomy 2 weeks ago. Methimazole was stopped and levothyroxine initiated after the operation. The patient has had no neck pain, dyspnea, or voice changes since the procedure but for the past several days has felt fatigued, irritable, and depressed. She also has had intermittent paresthesia in both hands and both feet. Medical history is otherwise unremarkable, and the patient does not use tobacco, alcohol, or recreational drugs. Which of the following examination findings is most likely in this patient?
A) BL Babinski sign
B) Fatigable ptosis
C) Inducible hand spasm
D) Symmetric proximal weakness
This patient has acute neuropsychiatric symptoms (eg, fatigue, depressed mood) and bilateral paresthesia in the extremities. Onset of these symptoms after thyroidectomy should raise suspicion for hypocalcemia due to hypoparathyroidism. Iatrogenic hypoparathyroidism can be caused by direct injury to the parathyroid glands, inadvertent removal, or devascularization during anterior neck surgery (eg, thyroidectomy
Lack of phenylalanine hydroxylase enzyme in PKU prevents conversion process of what amino acid
Phenylalanine to Tyrosine
This causes a large toxic buildup of phenylalanine in both blood and CNS
What is the drug most commonly known to cause nephrogenic diabetes insipidus
Lithium
Disorders associated with nephrogenic DI include polycystic kidney disorder, sickle cell disease, chronic pyelonephritis, sarcoidosis, amyloidosis, urinary tract obstruction
17-year-old girl presents with Amenorrhea and galactorrhea
Pregnancy test is negative, what is the most likely diagnosis
Pitutary adenoma
A pituitary Lactotroph adenoma also known as a prolactinoma may cause amenorrhea often associated with galacturia.
A microadenoma measures less than 10 mm and a macroadenoma measures more than 10 mm
Bromocriptine or dopamine agonist often restores menses and decreases prolactin levels to normal in patients with microadenoma
A 54-year-old female with recently diagnosed diabetes mellitus presents to the office with a skin rash. She states that the rash started three weeks ago on her forearm as a small, elevated red area. It gradually involved the surrounding skin, and became an erythematous, itchy, painful rash that did not respond to topical 1% hydrocortisone. Approximately one week ago, the rash started clearing up from the center. The patient has not been feeling well for the past 1-2 months. She also complains of lethargy, weight loss, diarrhea, abdominal cramps, and occasional facial flushing. On physical examination, a 4 X 5 cm, erythematous, scaly rash, which appears to be clearing from center, is noted. The borders appear slightly elevated and crusty. Angular cheilosis is also noted. What is the most likely diagnosis of this patient
Glucagonoma
Necrolytic migratory erythema
Name the metabolic disease that can cause subdural hematomas and retinal hemorrhages, can be mistaken for child abuse
Glutaric Acidemia Type 1
Glutaric aciduria is an Autosomal recessive enzyme defect, lack of glutaryl CoA dehydrogenase in the catabolic pathway of lysine, hydroxy lysine and tryptophan
Child was born at the 95th percentile and grew rapidly in the first year of life to the 99th percentile. This has continued for the first 5 years. Now in the sixth year it appears he has slowed to a normal growth rate. He is clumsy and has big feet and hands for his age. His bone age is slightly advanced, compatible with his height. What is the most likely diagnosis
Also known as cerebral gigantism
It is a mutation in NSD1 gene on 5q35 and is not a endocrine disorder per se. Growth hormone levels always normal, and affected children grow to normal height. Puberty occurs at normal time or slightly early.
Most common cause of epididymitis in young boys
What cause should be at the top of the differential diagnosis list as a cause of epididymitis in teen boys
Young: UTI
Teen: Gonorrhea and Chlamydia (STIs) : Treat patient and partner with appropriate antibiotics