Congenital hypothyroidism-most are primary (i.e., from thyroid gland)
- Sporadic or familial; with or without a goiter
Etiology:
o Most common is thyroid dysgenesis (hypoplasia, aplasia, ectopia); no goiter
o Defect in thyroid hormone synthesis–goitrous; autosomal recessive
o Transient neonatal hypothyroidism (resolves in 3 months)
o Transplacental passage of maternal thyrotropin
o Other:
~ Radioiodine exposure
~ Fetal exposure to excessive iodine (topical iodine antiseptics)
~ Fetal exposure to antithyroid drugs
~ Iodine deficiency or endemic goiter
o Central hypopituitarism
Clinical Manifestations:
- Clinical presentation is known as “cretinism’:
o Prolonged jaundice
o Large tongue
o Umbilical hernia
oEdema
o Mental retardation
o Developmental retardation
o Anterior and posterior fontanels wide
o Mouthopen
o Hypotonia
- Other findings-weight and length normal, feeding difficulties, apnea, sluggish, Continue reading »
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Reassurance of the family and the patients is the key to the management of normal-variant tall stature.The use of the bone age to predict adult height may provide some comfort, as will general supportive discussions on the social acceptability of this condition.

While treatment is available for girls and boys with excessive growth, its use should be restricted to patients with

(1) predicted adult height >3 SD above the mean (78 inches in males, 71 inches in females) and

(2) evidence of significant psychosocial impairment.

For the family that feels strongly about treatment, a trial of sex steroids may be considered. Such therapy is designed to accelerate puberty and epiphyseal fusion and is therefore of little benefit when given in late puberty; therapy is initiated ideally prepubertally or in early puberty.

In boys, treatment should begin before the bone age reaches 14 yr; testosterone enanthate is used at a dose of 500 mg IM every 2 wk for 6 mo.

In females, oral estrogens in various doses have successfully reduced the predicted height by 5–10 cm on average. This is a direct result of the known effects of sex steroids on promoting epiphyseal fusion; therapy must begin, therefore, before the bone age has reached 12 yr. Oral Continue reading »

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The cause of pathologic polyuria or polydipsia (exceeding 2 L/m2/24 hr) may be difficult to establish in children. Infants may present with irritability, failure to thrive, and intermittent fever.
History:
Patients with suspected DI should have a careful history taken, which should quantify the child’s daily fluid intake and output and establish the voiding pattern, nocturia, and primary or secondary enuresis
Examination:
A complete physical examination should establish the patient’s hydration status, and the physician should search for evidence of visual and central nervous system dysfunction as well as other pituitary hormone deficiencies
Investigations:
If pathologic polyuria or polydipsia is present, the following should be obtained:
serum for osmolality,
serum sodium, potassium, blood urea nitrogen, creatinine, glucose, and calcium;
urine for osmolality, specific gravity, and glucose determination.
The diagnosis of DI is established if the serum osmolality is greater than 300 mOsm/kg and the urine osmolality is less than 300 mOsm/kg.
If the patient’s serum osmolality is less than 300 mOsm/kg (but greater than 270 mOsm/kg) and pathologic polyuria and polydipsia are present, a water deprivation test is indicated to establish the diagnosis of DI and to differentiate central from nephrogenic causes.
In the inpatient post-neurosurgical setting, central DI is likely if hyperosmolality (serum osmolality >300 mOsm/kg) is associated with urine osmolality less than serum osmolality. It is important to distinguish between polyuria resulting from postsurgical central DI and polyuria resulting from the normal diuresis of fluids received intraoperatively. Both cases may be associated with a large volume (>200 mL/m2/h) of dilute urine, although in patients with DI, the serum osmolality is high in comparison with patients undergoing postoperative diuresis
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