Toxic Epidermal Necrolysis Secondary to Iodine Versus Methimazole in a Pediatric Patient With Complex Autoimmune Disease.

We report a case of a 17-year-old girl who developed toxic epidermal necrolysis (TEN) secondary to preoperative iodine administration before thyroidectomy for Graves' disease. Past medical history was significant for COVID-19 and multisystem inflammatory syndrome in Children (MISC-C), with subsequent diagnoses of type 1 diabetes mellitus (T1DM), Addison disease, and Graves' disease. Her Graves disease was initially managed with methimazole. While there are reported cases of Stevens-Johnson syndrome (SJS) and TEN due to methimazole, the patient had discontinued methimazole over one month prior. Therefore, she likely represents the first case of TEN reported secondary to potassium iodide solution in a pediatric patient. Given the rarity of TEN in pediatric patients, our case highlights the challenges in managing complex autoimmune conditions and underscores the importance of careful medication choices in such cases.

A Pediatric Patient With Type 1 Diabetes Mellitus With Poor Glycemic Control, Medication-Resistant Hypertension, and New-Onset Headache Diagnosed With Adrenocorticotropic Hormone (ACTH)-Secreting Pituitary Macroadenoma.

The most well-known cause of hyperglycemia is diabetes mellitus, a condition that affects the body's ability to either use (type 2 diabetes mellitus - T2DM) or produce (type 1 diabetes mellitus - T1DM) insulin. Exogenous insulin is the mainstay therapy to achieve optimal glucose control in T1DM, though glucose hemostasis is affected by several factors. Following the initiation of insulin therapy, symptoms of polyuria, polydipsia, and weight loss are reversed. Diabetes mellitus is associated with several complications, including but not limited to, renal disease (hypertension, microalbuminuria), peripheral neuropathy, delayed growth, and delayed puberty. Hyperglycemia can also be caused by acute illness, surgery, trauma, infection, parenteral nutrition, obesity, or other medical conditions such as Cushing syndrome and polycystic ovarian syndrome. While refractory hyperglycemia is often attributed to poor adherence to medications, other organic etiologies should also be considered, especially in the setting of early-onset complications of diabetes mellitus. In this report, we present a case of a pediatric patient with T1DM with refractory hyperglycemia and medication-resistant hypertension who was lost to follow-up. When he returned to the endocrinology clinic, he had Cushingoid features and a headache. After multiple admissions for hypertension, the patient was discovered to have a pituitary macroadenoma. Following the removal of the adenoma, the patient's insulin requirement decreased substantially and his blood pressure returned to normal, allowing all blood pressure medications to be discontinued.

Severe Hypertriglyceridemia-Induced Necrotizing Pancreatitis Associated With Ketogenic Diet in a Well-Controlled Patient With Type 2 Diabetes Mellitus.

The ketogenic diet (keto diet) has become an increasingly popular approach for both weight loss and as an alternative diet for type 2 diabetes mellitus (T2DM). Owing to the nature of the keto diet, patients are at risk of developing hypertriglyceridemia (HTG) due to the high amount of triglycerides consumed by individuals during the initiation of this diet. Acute pancreatitis can result from HTG. We present a case of a 19-year-old African American male with well-controlled T2DM and no history of HTG who developed severe necrotizing HTG-induced pancreatitis after an unsupervised three-month trial of the keto diet.

Infant With Severe Penoscrotal Hypospadias: A Complex Case of Genital Ambiguity and Mistaken Identity.

Individuals with an incongruence of their chromosomal sex and genital appearance are classified as having a disorder of sexual development (DSD), and they often present with ambiguous genitalia. The diagnosis and management of DSD patients are usually challenging and require a multidisciplinary approach. Gender assignment should not be based solely on physical exam and imaging but also on the genotype and hormonal function of the gonads. We present an infant born with ambiguous genitalia; the parents were told they were having a male infant during the prenatal ultrasound but at birth, the infant was found to have female-appearing external genitalia with no palpable gonads. MRI of the abdomen was inconclusive, but further workup, including karyotype, hormonal function, and intraoperative evaluation, was consistent with a male infant. He was, therefore, subsequently assigned to the male sex.

Sucrase-Isomaltase Deficiency Causing Persistent Bloating and Diarrhea in an Adult Female.

Congenital sucrase isomaltase deficiency (CSID) is an autosomal recessive disorder which leads to chronic intestinal malabsorption of nutrients from ingested starch and sucrose. Symptoms usually present after consumption of fruits, juices, grains, and starches, leading to failure to thrive and malnutrition. Diagnosis is suspected on detailed patient history and confirmed by a disaccharidase assay using small intestinal biopsies or sucrose hydrogen breath test. Treatment of CSID consists of limiting sucrose in diet and replacement therapy with sacrosidase. Due to its nonspecific symptoms, CSID may be undiagnosed in many patients for several years. We present a case of a 50-year-old woman with persistent symptoms of bloating in spite of extensive evaluation and treatment.

Measuring the Transition Readiness of Adolescents With Type 1 Diabetes Using the Transition Readiness Assessment Questionnaire.

IN BRIEF This study aimed to assess readiness to transition from pediatric to adult health care in adolescents with type 1 diabetes using the Transition Readiness Assessment Questionnaire (TRAQ). TRAQ is a non-disease-specific self-report measure that assesses self-management and advocacy skills of youth with special health care needs. This study provides guidance on assessing transition readiness scores of adolescents with diabetes and identifying when health care providers should intervene.

Turner syndrome due to Xp22.33 deletion with preserved gonadal function: case report.

Turner syndrome (TS) is a chromosomal condition affecting 1 in 2000 females characterized by partial or complete loss of one of the X chromosomes. We describe an 11-year-old female who was recently diagnosed with TS. Karyotype revealed a deletion of the distal portion of chromosome X. Chromosome single nucleotide polymorphism (SNP) array revealed microdeletion of Xp22.33p22.12. Patient reached her menarche at age 11 years. Both the patient and her mother have short stature. Her mother, however, has a normal karyotype. This is one of few case reports of TS with microdeletion of Xp22.33 reported in the literature, with normal ovarian function and possible future transmission of the deletion to the next generations.