Diagnosis of Congenital adrenal hyperplasia
Congenital adrenal hyperplasia Diagnosis: Book Excerpts
Diagnostic Tests for Congenital adrenal hyperplasia: Online Medical Books
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Hearing Loss – Congenital:
Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)
- Infections
–CMV: Most common intrauterine infection
causing hearing loss
–Bacterial meningitis
–Congenital rubella: Cataracts, cardiovascular
anomalies, retinitis, mental retardation
–Congenital syphilis
–Toxoplasmosis
–Lyme disease - Metabolic
–Hyperbilirubinemia (kernicterus): Consider phototherapy or exchange transfusion if serum bilirubin >20 mg/dL in newborn
–Hypercholesterolemia
-
Ototoxic medications
–Aminoglycoside, gentamicin often needed for perinatal sepsis; >5 days risks hearing loss
-
Temporal bone anomaly
–Middle ear anomaly (results in conductive
hearing loss)
–Perilymphatic fistula
–Dilated vestibular aqueduct (ħMondini
deformity)
–Michel cochlear aplasia
–Scheibe aplasia: Membranous aplasia; bony
labyrinth normal
-
Nonsyndromic hereditary congenital deafness (connexin 26 gene mutation is responsible for half of all genetic deafness)
-
Syndromic hereditary congenital deafness
–Waardenburg: Telecanthus, confluent eyebrow, colored irides, white forlock
–Usher: Retinitis pigmentosa (totally blind by second to third decade), ataxia, vestibular dysfunction
–Alport: Progressive nephritis and hearing loss
–Apert (acrocephalosyndactyly): Craniofacial dysostosis
–Crouzon (craniofacial dysostosis): Prognathic mandibile, small maxilla
–Jervell and Lange-Neilsen: Heart disease
(prolonged QT interval)
–Pendred: Euthyroid goiter
–Oto-palatal-digital: Cleft palate, stubby
clubbed digits
–Congential aural atresia
Workup and Diagnosis
-
Newborn hearing screening
–Otoacoustic emissions and/or auditory brainstem response; behavioral audiometry when older
-
Medical history for risk factors
–Infections, low birth weight (<1,500 g), prolonged intubation and ventilation
-
Family history for hearing loss, consanguinity
-
Physical exam, including otoscopy to rule out gross external or middle ear anomalies
-
CMV titers
-
CT scan to rule out temporal bone abnormalities, and determine whether patient is a cochlear implant candidate
-
β2 gap junction protein (connexin 26) genetic testing
-
Urinalysis and renal ultrasound to rule out Alport syndrome
-
Electroretinography to rule out Usher syndrome in patients with associated progressive blindness
-
Electrocardiography (ECG) to rule out Jervell and Lange-Neilsen syndrome (prolonged QT interval, sudden death risk with athletics)
-
Thyroid function tests
-
Chromosomal testing
>
» READ BOOK EXCERPT ONLINE »
Source: In A Page: Pediatric Signs and Symptoms, 2007
Adrenal hypofunction:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
Diagnosis requires demonstration of decreased corticosteroid concentrations in plasma and an accurate classification of adrenal hypofunction as primary or secondary. If secondary adrenal hypofunction is suspected, the metyrapone test is indicated. This test requires oral or I.V. administration of metyrapone, which blocks cortisol production and should stimulate the release of corticotropin from the hypothalamic-pituitary system. In adrenal hypofunction, the hypothalamic-pituitary system responds normally, and plasma reveals high levels of corticotropin; however, plasma levels of cortisol precursor and urinary concentrations of 17-hydroxycorticosteroids don’t rise.
If either primary or secondary adrenal hypofunction is suspected, a short corticotropin stimulation test may be done. If both corticotropin and cortisol are low, the long corticotropin test may be done. The test involves I.V. administration of corticotropin over 6 to 8 hours, after samples have been obtained to determine baseline plasma cortisol and 24-hour urine cortisol levels. In adrenal hypofunction, plasma and urine cortisol levels fail to rise normally in response to corticotropin; in secondary hypofunction, repeated doses of corticotropin over successive days produce a gradual increase in cortisol levels until normal values are reached.
In a patient with typical addisonian symptoms, the following laboratory findings strongly suggest acute adrenal hypofunction:
❑ decreased cortisol levels in plasma (less than 10 mcg/dl in the morning, with lower levels in the evening); however, this test is time-consuming, and emergency therapy shouldn’t be postponed for test results
❑ decreased serum sodium and fasting blood glucose levels
❑ increased serum potassium and blood urea nitrogen levels
❑ elevated hematocrit and lymphocyte and eosinophil counts
❑ X-rays showing a small heart and adrenal calcification.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
Adrenogenital syndrome:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
Physical examination revealing pseudohermaphroditism in females or precocious puberty in both sexes strongly suggests CAH. (See Hermaphroditism.)
Confirming diagnosis The following laboratory findings confirm the diagnosis: elevated plasma 17-ketosteroids (17-KS), which can be suppressed by administering oral dexamethasone; elevated urinary levels of hormone metabolites, particularly pregnanetriol; elevated plasma 17-hydroxyprogesterone level; and normal or decreased urinary levels of 17-hydroxycorticosteroids. Elevated dehydroepiandrosterone sulfate is present.
Adrenal hypofunction or adrenal crisis in the first week of life suggests salt-losing CAH. Hyperkalemia, hyponatremia, and hypochloremia with excessive urinary 17-KS and pregnanetriol and decreased urinary aldosterone levels confirm it.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
Adenoid hyperplasia:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
CONFIRMING DIAGNOSIS Nasopharyngoscopy or rhinoscopy confirms adenoid hyperplasia by allowing visualization of abnormal tissue. Lateral pharyngeal X-rays show an obliterated nasopharyngeal air column.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
Adrenal hypofunction:
Diagnosis
(Handbook of Diseases)
The diagnosis of adrenal insufficiency should be made only with corticotropin stimulation testing to assess adrenal reserve capacity.
The corticotropin stimulation test involves I.M. or I.V. administration of cosyntropin with samples obtained 60 minutes later. Cortisol levels should be greater than 18 µg/dl. If the result is abnormal, primary and secondary adrenal insufficiency can be distinguished by measuring aldosterone levels from the same blood sample. With secondary adrenal insufficiency, the aldosterone level is normal (greater than or equal to 5 ng/dl). Baseline plasma cortisol levels may also be obtained. With Addison’s disease, plasma and urine cortisol levels fail to rise normally in response to corticotropin; with secondary hypofunction, repeated doses of corticotropin over successive days produce a gradual increase in cortisol levels until normal values are reached.
» READ BOOK EXCERPT ONLINE »
Source: Handbook of Diseases, 2003
Congenital Infections:
Diagnosis
(Pediatric Infectious Disease)
The gold standard of diagnosis is isolation of the virus, usually from the
urine. Urine viral cultures are often positive within days because the kidney
is a principal site of viral replication. Proof of congenital infection is
based on obtaining appropriate specimens within 3 weeks of birth. After this
time, distinguishing between intrauterine infection and perinatal infection may
be difficult.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Infectious Disease, 2004
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