Cushing syndrome as a failed cardiac screen in a patient with McCune-Albright syndrome: a case report.

BACKGROUND: McCune-Albright syndrome is a complex disorder encompassing multiple endocrinopathies. These manifestations are secondary to a mutation in the stimulatory G-protein alpha subunit. Cushing syndrome is due to autonomous secretory function of the adrenal gland and is present in 7.1% of patients with McCune-Albright syndrome. Cardiac newborn screenings assist in the identification of critical congenital heart disease. These screenings have become part of routine postnatal care nationwide. CASE REPORT: A 6-week-old Caucasian male presented to a cardiologist at the University of Tennessee Health Science Center with left ventricular hypertrophy and poor feeding after a failed cardiac newborn screen. He had been previously seen at 2 weeks by a cardiologist on follow-up for abnormal critical congenital heart disease screening. Electrocardiogram and echocardiographic studies identified hypertrophic cardiomyopathy. Other examination findings revealed multiple characteristic café-au-lait lesions along with hypotonia and rounded facies. Given his cardiac disease, he was admitted to the hospital, where an evaluation was done for Cushing syndrome, showing elevated cortisol by immunoassay of 38 µg/dL (1.7-14.0 µg/dL, Vitros 5600) after a dexamethasone suppression test and urinary cortisol elevated to 35 µg/dL/24 hours (reference range 3-9 µg/dL/24 hours) (Esoterix; Calabasas, CA). He was started on metyrapone therapy to block synthesis of cortisol. His cortisol improved and was suppressed less than 2 µg/dL. His hypertension and clinical features of Cushing syndrome improved. CONCLUSIONS: This case demonstrates a unique presentation of Cushing syndrome in a young infant. This is the first case to our knowledge showing significant left ventricular hypertrophy resulting from Cushing syndrome identified following a failure on a critical congenital heart disease screen. It highlights the importance of considering of McCune-Albright syndrome in patients with Cushing syndrome, especially if other clinical features are present. Medical therapy can be used to treat Cushing syndrome and can result in improvement in the cardiovascular pathology.

The effect of nutritional status on post-operative outcomes in pediatric otolaryngology-head and neck surgery.

INTRODUCTION: Nutritional status can affect surgical patients in terms of stress response, healing time, and outcomes. Several abnormalities are known to have a high prevalence in the general population such as vitamin D deficiency (VDD) and subclinical hypothyroidism. We hypothesized that there will be elevated rates of nutritional deficiencies in preoperative patients which may adversely affect postoperative outcomes following pediatric otolaryngology surgery. METHODS: IRB approval was obtained for a cross-sectional cohort study. Consecutive patients underwent nutritional evaluation when being scheduled for surgery including TSH, albumin and vitamin D. Demographic data, supplementation, and early complication rates were collected. RESULTS: 125 patients were included in the final cohort with adequate demographic distribution. Based on anthropometric data, 12% of our cohort was found to be undernourished, and 40% of our cohort with elevated BMI. However, there was no relationship found between Z-scores and complications. VDD was noted in 83/125 (66.4%) patients. Our cohort had increased rates of VDD in patients with elevated BMI and African American ethnicity. Thyroid hormone abnormalities were present in 12 patients. Mean serum albumin level was 4.29 in our cohort all within normal range. We did find increased risk of postoperative complications in patients with previously diagnosed comorbidities. (p=0.006). CONCLUSION: There is no current recommendation or consensus for nutritional assessment in preoperative pediatric patients. Our study did not show statistically significant correlation with z-scores, low vitamin D levels with supplementation, albumin, or TSH to postoperative complications. However, our patient cohort had higher than average rates of VDD compared to the many studies of the general pediatric population and significant negative correlation between vitamin D levels and z-scores. By early preoperative identification of VDD and supplementation with calciferol, we found no significant difference in complication rates in patients based on their initial vitamin D status. We suggest screening preoperative patients using z-score calculations and vitamin D levels based on individual patient risk factors including atrisk patient populations such as African American children, and obese children.

Lung cyst and multinodular thyroid goiter: Keys to DICER1 syndrome diagnosis in a 16-year-old female.

Pulmonary cysts and neoplasms, especially congenital or occurring at a young age, should be thoroughly investigated. Evaluation for DICER1 mutations should be performed if there is a family history of this syndrome, the lung cyst/neoplasm is a pleuropulmonary blastoma, or other clinical manifestations of this syndrome are present or develop.

Menstrual Irregularities.

Irregular menstrual cycles are a common complaint among adolescents. There are multiple etiologies for menstrual irregularities. It is important to have a stepwise approach, including obtaining a thorough medical history and performing a physical examination, when patients present. Understanding the characteristics of the menstrual cycle helps determine the etiology. This article discusses the differential diagnosis of irregular menstrual cycles, as well as the approach to evaluation and management. The common conditions and defining characteristics are also discussed. [Pediatr Ann. 2018;47(1):e23-e28.].

Low vitamin D level in pediatric patients with new onset type 1 diabetes is common, especially if in ketoacidosis.

BACKGROUND: Vitamin D deficiency (VDD) adversely affects bone health. US data on prevalence of VDD or vitamin D insufficiency (VDI) at diagnosis of type 1 diabetes (T1D) is lacking. Low serum 25-hydroxyvitamin D (25OHD) is speculated to increase the risk of developing T1D. OBJECTIVES: Assess the prevalence of pediatric VDD and VDI at diagnosis of T1D, and investigate correlations with demographic and clinical parameters. METHODS: We performed a retrospective Institutional Review Board (IRB)-approved chart review of all T1D cases diagnosed from January 2011 to August 2012, all having the same 25OHD assay performed at Quest Diagnostics. Definitions for VDD, VDI, and vitamin D sufficiency (VDS) were 25OHD levels (ng/mL) ≤ 20, 21-29, and ≥ 30, respectively. We termed 25OHD <30 ng/mL as Low-D. RESULTS: We identified 185 autoantibody positive T1D subjects (51% female) with 25OHD measured, 51% Caucasian, 25% Hispanic, 4% mixed-Hispanic, 4% African American, and 16% other/mixed race. Mean age 9.8 yr (0.9-18.6). Most had Low-D (58%), 40% VDI, 18% VDD, and 42% VDS. No gender or age differences among the 25OHD groups. Low-D was more common (p < 0.0001) in Hispanics (81%) vs Caucasians (44%), but VDD rates were similar. Low-D subjects were heavier than VDS (p = 0.018). All four with elevated celiac titers were VDS. Diabetic ketoacidosis was present in 33%, but more common (44%) in Low-D vs. VDS (18%) (p < 0.0001), and trended higher in VDD (61%) vs. VDI (36%). Seventy-seven percentage with DKA had Low-D. CONCLUSION: VDD and insufficiency are common, even in Caucasians, at onset of T1D in pediatrics, worse in those with DKA.

Randomized clinical trial evaluating metformin versus oral contraceptive pills in the treatment of adolescents with polycystic ovarian syndrome.

BACKGROUND: Polycystic ovarian syndrome (PCOS) is characterized by irregular menses, elevated androgens, and insulin resistance. Little information is published about the treatment of adolescent PCOS. OBJECTIVES: The aim of this study was to evaluate metformin versus oral contraceptive pills (OCP) in treating adolescent PCOS. Twenty-two girls were randomized to either treatment for 6 months. The outcomes variables included body mass index (BMI) and free testosterone (FT). RESULTS: BMI decreased in all patients (metformin p=0.004, OCP p=0.045). FT decreased significantly only with OCP. Insulin resistance measures decreased in all patients but did not reach significance. The only significant difference in any of the variables between the two groups was number of menses. BMI and FT remained less than baseline for 3 months off treatment. CONCLUSIONS: Metformin and OCP have a positive effect on BMI, which persists after treatment is discontinued. FT decreased with both treatments, but only reached significance with OCP.

Thyrotoxic, hypokalemic periodic paralysis (THPP) in adolescents.

INTRODUCTION: Periodic paralysis associated with hyperthyroidism and hypokalemia is an uncommon disorder reported primarily in Asian males and rarely in children. We report three Hispanic adolescent males who were seen with Graves' disease (GD) and THPP. METHODS: The method used was chart review. RESULTS: Two of these boys presented with episodes of paralysis and were diagnosed with GD. The third was initially seen with hyperthyroidism and developed weakness and paralysis when his disease progressed because of therapeutic noncompliance. Hypokalemia was documented in two of the three patients with the third not seen during paralysis. Intravenous K⁺ was required in only one case. All three boys were treated with antithyroid medications and ß blockers, and the musculoskeletal symptoms resolved in all three when hyperthyroidism was controlled after 2 weeks of treatment. The duration for each episode of weakness and paralysis varied in each case and resolved within 15 min to 2 h in case 1, 1-5 h in case 2, and 24 h in case 3. CONCLUSIONS: THPP is considered uncommon except in Asian males and rare in childhood and adolescence. Its occurrence in these three Hispanic boys suggests that it may occur more frequently in the young and in the USA than has been suspected, especially with the changing national demographics. We believe that our experience should raise the awareness of THPP among pediatric care providers.

Successful use of long acting octreotide in two cases with Beckwith-Wiedemann syndrome and severe hypoglycemia.

INTRODUCTION: Hyperinsulinism associated with Beckwith-Wiedemann syndrome (BWS) can occur in about 50% of cases, causing hypoglycemia of variable severity. Parenteral use of octreotide may be indicated if unresponsive to diazoxide. There is limited data on use of octreotide in BWS. OBJECTIVE: Chart review describing 2 cases with BWS and hypoglycemia treated with long acting Octreotide as a monthly injection. CASES: We describe two unrelated females born large for gestational age found to have clinical features consistent with BWS, who developed severe hypoglycemia. Genetic diagnosis of BWS was confirmed. The first patient was born at 37 weeks and developed hypoglycemia shortly after birth. She was initially started on diazoxide but developed pulmonary congestion and was therefore switched to depot octreotide (LAR). She maintained euglycemia with LAR. In the second patient (born at 26-4/7 weeks), onset of hypoglycemia was delayed till 11 weeks of age due to hydrocortisone (indicated hemodynamically) and continuous feeding, and was partially responsive to diazoxide. She was switched to octreotide 4 times daily, treated till at age 18 months. Despite frequent feeds, she required treatment again between ages 4-6.5 years, initially with diazoxide but due to severe hypertrichosis she was switched to LAR with an excellent response. Both patients treated with LAR for over two years achieved euglycemia above 70 mg/dl and had normal height gain, without side effects. CONCLUSION: Successful treatment of hypoglycemia can be achieved and maintained with LAR in infants and children with BWS who are either resistant or cannot tolerate diazoxide.