Transient Pseudohypoaldosteronism due to Urinary Tract Infection in Infancy: A Report of 4 Cases

Hyponatremia with hyperkalemia in infancy is an uncommon but life-threatening occurrence. In the first weeks of life, this scenario is often associated with aldosterone deficiency due to salt-wasting congenital adrenal hyperplasia. However, alternative diagnoses involving inadequate mineralocorticoid secretion or action must be considered, particularly for infants one month of age or older. We report four infants who presented with profound hyponatremia accompanied by urinary tract infection, ultimately leading to the diagnosis of transient pseudohypoaldosteronism. Our cases provide support for the idea that the renal tubular resistance to aldosterone is due to urinary tract infection itself rather than to underlying urinary tract anomalies typically found in these infants. Awareness of this condition is important so that serum aldosterone, urine sodium, and urine cultures may be obtained immediately in any infant presenting with hyponatremia and hyperkalemia in whom a diagnosis of congenital adrenal hyperplasia was not found. Adequate replacement with intravenous saline and antibiotic therapy is sufficient to correct sodium levels over 24–48 hours

Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene

Pubertal gynecomastia is common, can be seen in 65% of the adolescent boys and is considered physiological. It is thought to be due to transient imbalance between the ratio of testosterone and estradiol in the early stages of puberty. It resolves in 1–2 years and requires no treatment. However, more persistent and severe pubertal gynecomastia is less common and can be associated with pathological disorders. These can be due to diminished androgen production, increased estrogen production or androgen resistance. We report a case of persistent pubertal gynecomastia due to partial androgen insensitivity syndrome (PAIS), classical hormone findings and a novel mutation in the androgen receptor (AR) gene

Children with hyperthyroidism younger than age 7 require higher mg/kg doses of methimazole to normalize free T4 compared to older children.

AbstractHyperthyroidism is much less common in children &lt;7 years vs. older children and less well studied. It was our impression that the youngest patients needed a higher weight-based dose of methimazole (MMI) to achieve euthyroidism.To compare the mean MMI dose needed to normalize free T4 in younger (&lt;7 years) vs. older children and the time taken to normalize free T4.Based on chart review (2004–2012), patients were divided into groups based on age at diagnosis: &lt;7 years (n=13), 7–12 years (n=30) and &gt;12 years (n=40). Follow-up visits were reviewed until free T4 normalized.The mean dose of MMI (mg/kg/day) needed to normalize free T4 was 0.71 (±0.29) in the &lt;7 group, significantly higher vs. the two older groups: 0.50 (±0.22) and 0.44 (±0.24). Months taken to achieve a euthyroid state was significantly longer in children &lt;7 (6.23±3.91) vs. the older groups (3.10±2.12 and 3.18±2.86 months).Hyperthyroid children diagnosed before age 7 required higher initial doses of MMI and took a longer time to become euthyroid than older patients. Clinicians should consider starting with higher weight-based MMI doses when treating younger patients to more rapidly normalize free T4.</jats:p