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Henoch-Schönlein purpura presenting post COVID-19 vaccination [Letter]

Hines, Adam M; Murphy, Neal; Mullin, Christine; Barillas, Julia; Barrientos, Jacqueline C
PMID: 34247902
ISSN: 1873-2518
CID: 5122232

Iatrogenic Cushing Syndrome in a Child With Congenital Adrenal Hyperplasia: Erroneous Compounding of Hydrocortisone

Barillas, Julia E; Eichner, Daniel; Van Wagoner, Ryan; Speiser, Phyllis W
Context/UNASSIGNED:Patients with 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) require lifelong treatment with glucocorticoids. In growing children, the drug of choice is hydrocortisone. Commercially available hydrocortisone tablets do not conform to very low doses prescribed to infants and toddlers, and compounded hydrocortisone is often dispensed to meet therapeutic needs. However, safety, efficacy, and uniformity of compounded products are not tested. We report a case of Cushing syndrome in a child with CAH who was inadvertently receiving excessive hydrocortisone in compounded form. Design/UNASSIGNED:A 20-month-old girl with CAH developed growth deceleration, excessive weight for length, irritability, increased facial fat, plethora, and excess body hair while receiving hydrocortisone from a local compounding pharmacy. The signs and symptoms persisted despite decreasing hydrocortisone dose. Iatrogenic Cushing syndrome was suspected. The prescribed hydrocortisone capsules were sent for analysis to the Sports Medicine Research & Testing Laboratory, where testing revealed that each 1-mg hydrocortisone capsule contained five to 10 times the dose prescribed and listed on the label. Conclusion/UNASSIGNED:Physicians must be aware that errors in compounded medications may lead to unanticipated adverse effects. Iatrogenic Cushing syndrome should be suspected in any child receiving compounded glucocorticoid treatment who develops growth arrest and excess weight gain.
PMID: 29029106
ISSN: 1945-7197
CID: 2985112

Turner syndrome with 45, X mosaicism and Y/autosome translocation [Meeting Abstract]

Dingle, E; Mehta, S; Pappas, J; Barillas, J; Brar, P C
Background:Y chromosome material is detected in 6% of Turner syndrome patients by karyotype (1). Y/autosome translocation in Turner syndrome is associated with a) female genitalia or signs of virilization; b) gonadal dysgenesis and a 7-30% future risk of gonadoblastoma (2). We present an atypical phenotype of a Turner syndrome female with 45,X/45,X,dic(Y;5)(p11.3; p15.3). Clinical case: A 9-year and 10-month-old girl presented with short stature (height: 121 cm, -3.2 SD; weight: 37.6 kg, 75%) and Turner syndrome habitus: wide short neck, broad chest, with no signs of virilization, no cardiac defects, no hepatosplenomegaly and with mild learning disability. Lab evaluation: LH 1.14 (<=2.91 U/L); FSH 50.9 (0.72-5.33 U/L); estradiol <2 (
ISSN: 0163-769x
CID: 2631962

Salivary Testosterone during the Minipuberty of Infancy

Contreras, Maria; Raisingani, Manish; Chandler, Donald Walt; Curtin, William D; Barillas, Julia; Brar, Preneet Cheema; Prasad, Kris; Shah, Bina; David, Raphael
BACKGROUND: The hypothalamic-pituitary-gonadal axis is transiently activated during the postnatal months in boys, a phenomenon termed "minipuberty" of infancy, when serum testosterone (T) increases to pubertal levels. Despite high circulating T there are no signs of virilization. We hypothesize that free T as measured in saliva is low, which would explain the absence of virilization. METHODS: We measured serum total T and free T in saliva using liquid chromatography-tandem mass spectrometry (LC-MS/MS) in 30 infant boys, aged 1-6 months, and in 12 adolescents, aged 11-17 years. RESULTS: Total serum T in all infants was, as expected, high (172 +/- 78 ng/dL) while salivary T was low (7.7 +/- 4 pg/mL or 0.45 +/- 0.20%). In contrast, salivary T in the adolescents was much higher (41 +/- 18 pg/mL or 1.3 +/- 0.36%) in relation to their total serum T (323 +/- 117 ng/dL). We provide for the first time reference data for salivary T in infants. CONCLUSION: Measurement of salivary T by LC-MS/MS is a promising noninvasive technique to reflect free T in infants. The low free T explains the absence of virilization. The minipuberty of infancy is more likely of intragonadal than peripheral significance..
PMID: 28073108
ISSN: 1663-2826
CID: 2541132