Thyroid
This is the most common cause of congenital hypothyroidism in iodine-sufficient countries.
What is thyroid dysgenesis?
This is an important imaging modality we obtain when concerned about growth faltering.
What is Bone age radiography
What is the most likely test to confirm the diagnosis of a 3-day-old neonate with a 46,XX karyotype presents with ambiguous genitalia, including a 3 cm clitorophallic structure, posterior fusion of the labioscrotal folds, and a single urogenital orifice. Prenatal ultrasound showed genital ambiguity, and the neonate has normal vital signs and is feeding well. Skin hyperpigmentation is also observed.
What is a 17-hydroxyprogesterone level
A 15-year-old boy is evaluated for delayed puberty. He is tall with long limbs, has small firm testes, gynecomastia, and sparse facial hair. Labs show elevated FSH and LH, with low testosterone.
What is Klinefelter syndrome (47,XXY)
This life-threatening complication of new-onset type 1 diabetes in children is characterized by hyperglycemia, ketosis, and metabolic acidosis, and presents with symptoms such as polyuria, polydipsia, weight loss, and Kussmaul respirations.
What is Diabetic ketoacidosis (DKA)
15-year-old with palpitations, weight loss, tremor, proptosis, a diffusely enlarged thyroid, suppressed TSH, elevated free T4, and positive thyroid-stimulating immunoglobulins. What is the best pharmacological treatment
What is Methimazole
A 7-year-old child presents with short stature and poor growth velocity. Bone age is delayed. He has normal body proportions and a history of neonatal hypoglycemia and prolonged jaundice.
What is growth hormone deficiency?
10-year-old girl is undergoing evaluation for progressive weight gain over the past 6 months. There have been no changes in the child’s diet or activity level. Her body mass index exceeds the 95th percentile. On physical examination, the girl’s blood pressure is 110/80 mm Hg. She has truncal obesity with abdominal striae and a sexual maturity rating of 1. The remainder of her examination findings are within normal limits. What is the best test to confirm the diagnosis
what is 24 hour urine cortisol concentration ( other acceptable answers include: dexamethasone suppression test or midnight salivary cortisol)
In patients with Turner syndrome, underdeveloped fibrous gonads with no functional follicles are commonly referred to as these.
What are streak ovaries?
A 16-year-old adolescent presents with a body mass index of 40 kg/m², increased thirst and urination, and a blood pressure of 140/92 mm Hg. Physical exam reveals striae over the flanks and dark skin pigmentation on the neck with skin tags. Laboratory findings include a serum glucose of 237 mg/dL, hemoglobin A1c of 7.6%, and positive glucosuria. What is the most appropriate pharmacological therapy
What is Metformin
15-year-old girl presents with a painless, symmetric, granular thyroid enlargement discovered 3 months ago. Her thyroid function tests are normal, but thyroid peroxidase and thyroglobulin antibodies are markedly elevated. What is the best management for her.
What is No treatment
A 16-year-old boy presents with delayed puberty and anosmia. He has no facial hair, small testes, and a high-pitched voice. FSH and LH are low, and testosterone is low. MRI shows absent olfactory bulbs.
What is Kallmann syndrome?
A 10-year-old boy presents with episodic headaches, palpitations, and sweating. Family history reveals that his father had a history of bilateral adrenal tumors and underwent thyroid surgery in his 30s. Genetic testing confirms a RET proto-oncogene mutation.
What is Multiple Endocrine Neoplasia type 2 (MEN2)
A 15-year-old girl is referred for primary amenorrhea. She has normal breast development, scant pubic and axillary hair, and no uterus on pelvic ultrasound. Karyotype reveals 46,XY.
What is complete androgen insensitivity syndrome?
A previously healthy 7-year-old girl is brought to the emergency department for evaluation of acute-onset upper abdominal pain that radiates to her back. The pain worsens when she eats. The girl appears ill and uncomfortable. Her temperature is 38 °C, blood pressure is 120/85 mm Hg, heart rate is 120 beats/min, and respiratory rate is 22 breaths/min. She has diffuse abdominal tenderness without rebound or guarding. The remainder of her examination findings are unremarkable. An intravenous line is placed and a blood sample is obtained for laboratory evaluation. The blood sample appears turbid. What is most likely lab finding that is markedly elevated
What is triglycerides
A mother who had no prenatal care delivers a term neonate. She reports taking no medications during the pregnancy. On physical examination, the neonate is vigorous and breathing comfortably on the warmer, with normal vital signs. He appears small for gestational age, and there is a small mass noted at the anterior neck. The remainder of his examination findings are normal. On further inquiry, the mother reports that several years ago she was prescribed medication to treat a thyroid problem that was diagnosed after she experienced significant weight loss. What antibody would we check baby for?
Thyroid Stimulating Immunoglobulin antibodies
11.5-year-old girl who is a dancer practicing five days a week presents with absent menstrual periods. She has a sexual maturity rating of 1 for both breast development and pubic hair. Her growth curves show height in the 5th percentile, weight below 5th percentile, and a BMI of 18. She has no relevant medical history, a normal appetite, and normal vital signs. Given her history and physical findings, this condition is the most likely diagnosis
What is constitutional delay of growth and development
This hormone deficiency, which can occur after cranial radiation, leads to hyponatremia due to impaired free-water excretion, mimicking SIADH but requiring glucocorticoid replacement rather than fluid restriction.
What is Secondary Adrenal insufficiency
This is the most likely cause of virilization in a 5-year-old girl with new pubic and axillary hair, clitoral enlargement, no breast development, and a family history of testicular cancer treated with orchiectomy and hormone therapy
What is Exogenous hormone exposure
This 6-month-old infant, born at 33 weeks' gestation, presents to the emergency department with decreased movement of an extremity. His parents are concerned after noticing swelling later in the day. He is exclusively breastfed. His medical history includes prematurity and recent concerns of poor growth. Laboratory tests show low 25-hydroxyvitamin D levels, and radiographic imaging is performed. What is the MOST likely finding on imaging?
What is metaphyseal cupping of the wrists