Caring for Patients With Congenital Adrenal Hyperplasia Throughout the Lifespan.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder affecting cortisol and aldosterone biosynthesis, which can lead to virilization in fetuses with a 46,XX karyotype. 21-hydroxylase deficiency is the most common cause of CAH, accounting for 90-99% of all patients with the condition. The management of patients with CAH should be done with a multidisciplinary team, which would address all of the complex components of their care throughout their lifespans.

A quality improvement project for managing hypocalcemia after pediatric total thyroidectomy.

Objectives Hypocalcemia following total thyroidectomy (TT) is relatively common. It may result in significant morbidity, prolonged hospital stay, and increased costs. Treatment with intravenous (IV) calcium gluconate may also carry significant risks.

Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States.

Newborn screening for congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency is mandated throughout the US. Filter paper blood specimens are assayed for 17-hydroxyprogesterone (17OHP). Prematurity, low birth weight, or critical illness cause falsely elevated results.

Evolving indications for surgical intervention in patients with differences/disorders of sex development: Implications of deferred reconstruction.

Rare medical conditions are difficult to study due to the lack of patient volume and limited research resources, and as a result of these challenges, progress in the care of patients with these conditions is slow. Individuals born with differences of sex development (DSD) fall into this category of rare conditions and have additional social barriers due to the intimate nature of the conditions. There is also a lack of general knowledge in the medical community about this group of diverse diagnoses.

Care of the adolescent patient with congenital adrenal hyperplasia: Special considerations, shared decision making, and transition.

The care of infants with congenital adrenal hyperplasia has recently been examined and principles of shared decision making are being used to aid families at that crucial stage of care. Although there is no rigorous data to support delay of surgery, some families are choosing to wait until the patient can participate in choosing the course of care. Whether patients undergo reconstructive procedures or not in the newborn period, they may need or desire revision or primary surgeries as an adolescent or young adult.

Utilization of a shared decision-making tool in a female infant with congenital adrenal hyperplasia and genital ambiguity.

Background Shared decision-making (SDM) is the process by which patients/families and providers make healthcare decisions together. Our team of multidisciplinary disorders of sex development (DSD) has developed an SDM tool for parents and female patients with congenital adrenal hyperplasia (CAH) and associated genital atypia. What is new Elective genital surgery is considered controversial.

Squamosal Suture Craniosynostosis Due to Hyperthyroidism Caused by an Activating Thyrotropin Receptor Mutation (T632I).

Background: Congenital hyperthyroidism can be a cause of failure to thrive, hyperactivity, developmental delay, and craniosynostosis during infancy. Most commonly, the condition occurs in the setting of maternal autoimmune thyroid disease. Rarely, congenital hyperthyroidism can also occur secondary to activating mutations within the thyrotropin (TSH) receptor.

Genetic risk score for prediction of newborn adiposity and large-for-gestational-age birth.

Context: Macrosomic infants are at increased risk for adverse metabolic outcomes. Improving prediction of large-for-gestational-age (LGA) birth may help prevent these outcomes.

Objective: This study sought to determine whether genes associated with obesity-related traits in adults are associated with newborn size, and whether a genetic risk score (GRS) predicts LGA birth.

The relation of a woman’s impaired in utero growth and association of diabetes during pregnancy.

Small for gestational age (weight for gestational age <10th percentile, SGA) birth status and adulthood susceptibility to diabetes is well established, but the relationship to diabetes during pregnancy is incompletely understood. The authors investigated the association between women's impaired fetal growth (as measured by SGA status) and diabetes mellitus (DM) during pregnancy. Stratified and multivariable binomial regression analyses were performed on the Illinois transgenerational dataset.