Iatrogenic Cushing's Syndrome in a Patient With Salt-Wasting Congenital Adrenal Hyperplasia (SWCAH)

Abstracts of the Pediatric Endocrinology Nursing Society Convention, 2011, Indianapolis, IN triglycerides (1,297 mg/dl) and elevated HbA1c 6.3%. One month ago, he was admitted with abdominal pain, fever, and nausea. Abdominal ultrasound showed gallbladder sludge, and a laparoscopic cholecystectomy was done. His serum sodium during that admission was 130 mEq/L. Maternal grandfather and uncle has type 1 diabetes. Evaluation: Physical examination revealed a tanned thin male in no distress. Weight was 77 kg (75th percentile); height was 165.1 cm (3rd percentile); and vital signs were stable with blood pressure 101/52. An ACTH stimulation test (250 μg cosyntropin) was performed with baseline cortisol less than 0.4 μg/dl; his peak level (60 minutes) was less than 0.4 μg/dl; sodium was 127 mEq/L; and potassium was 4.6 mEq/L. He was diagnosed with adrenal insufficiency. Laboratory studies showed 21-hydroxylase, ICA 512, and human insulin antibodies were all positive. Anti-GAD 65, thyroid, and celiac antibodies were negative. ACTH was 1,255 pg/ml (nl 10–60). Interventions: During hospitalization, he was started on hydrocortisone and fludrocortisone replacement doses and was taught stress steroid dosing. During his hospitalization, his blood sugars were normal. He rapidly improved and was discharged and advised to monitor his blood sugars three times a day. During his 2-week follow-up office visit, he had multiple blood sugars greater than 200 mg/dl, and he was started on basal bolus insulin therapy. Discussions/Recommendations: This is a unique case where the patient had symptoms of Addison's disease prior to being diagnosed with diabetes. The adrenal insufficiency masked type 1 diabetes by preventing significant hyperglycemia. Addison's disease is a rare autoimmune disease (1 in 25,000 to 1 in 100,000); however, the prevalence is much higher in association with type 1 diabetes (1 in 50 to 1 in 200). Patients with both conditions usually present with type 1 diabetes first and may take years to develop Addison's disease. Routine screening for 21-hydroxylase antibodies should be considered in all patients with type 1 diabetes. In addition, patients with type 1 diabetes should be educated on the signs and symptoms of Addison's disease, and additional tests should be done in patients who present with symptoms. doi:10.1016/j.pedn.2011.04.010 Treating Hyperlipidemia and Type 2 Diabetes Mellitus in a Young Woman With Turner Syndrome Marikay Batina, MPH, BSN, RN, CDE Kaiser Permanente, San Francisco, CA

Patient Demographics: The patient is a 20-year-old Caucasian female with Turner syndrome. Clinical Presentation: The patient presented with hyperlipidemia and type 2 diabetes at 17 years 4 months of age with height 1.445 m (0.22% compared to all girls and 75% on Turner syndrome chart), weight 54.7 kg (46%), and body mass index (BMI) 26.23 kg/m2 (88.05%). Past History: She was diagnosed with Turner syndrome at 7 years 6 months. She received growth hormone therapy (start date unclear) until chronological age 16 years 4 months. She started on estrogen hormone replacement therapy at 15 years 9 months. She had menarche at 16 years 4 months and then was switched to norethindrone/ethinyl estradiol. Family history is significant for hypertension, hypercholesterolemia, hypertriglyceridemia,

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early cardiovascular disease, and diabetes mellitus type 1 and type 2. Evaluation: In February 2008, her fasting blood sugar (FBS) was 110 mg/dl, and her lipids showed cholesterol 352 mg/dl, triglycerides 377 mg/dl, high-density lipoprotein (HDL) 52 mg/dl, and low-density lipoprotein (LDL) 225 mg/dl. In September 2008, oral glucose tolerance test 75 g load showed FBS 96 mg/dl, 1-hour glucose 291 mg/dl, and 2-hour glucose 290 mg/dl. The 2-hour value was consistent with type 2 diabetes (greater than 200 mg/dl). Interventions: In February 2008, she was referred to the Nutrition and Lipid Clinic for impaired FBS and hyperlipidemia. These clinics recommended significant lifestyle changes (nutrition and exercise), which the patient implemented. In September 2008, she was diagnosed with type 2 diabetes and in addition to lifestyle changes, she was started on metformin. In February 2009, her lipids improved slightly, but LDL remained high (cholesterol 255 mg/dl, triglycerides 293 mg/dl, HDL 39 mg/dl, and LDL 157 mg/dl). She was started on rosuvastatin and fish oil. In October 2010, her FBS improved (85 mg/dl), and her cholesterol improved (cholesterol 157 mg/dl, HDL 44 mg/dl, LDL 65 mg/dl), but her triglycerides remained elevated (triglycerides 241 mg/dl) and her blood pressure (BP) was elevated (125/87 mmHg). After these interventions, her weight (51.8 kg) and her BMI (24.57 kg/m2) improved. The endocrine nurse provided ongoing education for exercise and management of type 2 diabetes and hyperlipidemia using motivational interviewing and for nutrition in consultation with the dietician. The patient remains highly motivated, and her family continues to provide significant support. She may need an angiotensin-converting enzyme inhibitor if BP remains elevated. Because of her age, she is being transitioned from the pediatric endocrinology clinic to adult endocrinology, and they will address her elevated triglycerides. Discussion/Recommendations: This case demonstrates that with intensive medical and nursing intervention and a highly motivated patient, it is possible to improve fasting glucose levels, lipids, and BMI in patients with Turner syndrome. The implications for the endocrine nurse include the importance of understanding the pathophysiology of this syndrome, maintaining knowledge of current treatment strategies, collaborating care with other health care professionals, and providing ongoing education and psychosocial support for the patient. doi:10.1016/j.pedn.2011.04.011 Iatrogenic Cushing's Syndrome in a Patient With Salt-Wasting Congenital Adrenal Hyperplasia (SWCAH) Carol Van Ryzin, RN, CPNP National Institutes of Health

Patient Demographics: A.S. is a 17-year-old Caucasian female. Clinical Presentation: A.S. presented to the clinic with net weight gain of 10 kg in 2 years, hair loss, fatigue, severe salt cravings, and daily headaches. Past Medical History: A.S. was born with ambiguous genitalia. 46XX karyotype and initial 17-hydroxyprogesterone (17-OHP) greater than 6,666 ng/dl led to diagnosis of salt-wasting congenital adrenal hyperplasia (SWCAH) due to 21-hydroxylase deficiency. She was initially treated with cortisone acetate and fludrocortisone. The mother is 65 in. tall and had menarche at 13 years. The father

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Abstracts of the Pediatric Endocrinology Nursing Society Convention, 2011, Indianapolis, IN

is 69 in. tall and reported early puberty. There is no family history of congenital adrenal hyperplasia or obesity. Evaluation: A.S.'s medications were prednisone 5 mg, BID, and fludrocortisone 25 μg q AM. Physical examination was remarkable for a round face, flat affect, noticeably thinning hair, widened part, no bald patches or receding hairline, dorsocervical fat pad, faded striae on abdomen, and central weight distribution. Blood pressure was 125/76 (95%), weight 58.2 kg, height 152.5 cm, body mass index 25 kg/m2 (85%), body surface area 1.55 m2, waist circumference 81 cm, and hip circumference 89 cm. Laboratories showed sodium 136 mmol/L, 17-OHP 225 ng/dl (normal b1,000), androstenedione 26 ng/dl (normal 80–240), and plasma renin 5.6 ng/ml per hour (M = 1.8). Interventions: A gradual dose adjustment was made by decreasing the glucocorticoid (prednisone 2 mg BID) and increasing the mineralcorticoid (fludrocortisone 50 μg BID). Clinical status and laboratory studies were monitored. The patient and family were advised to report any signs and symptoms of adrenal insufficiency. Discussion/Recommendations: Excess cortisol and symptoms of Cushing's disease due to high doses of glucocorticoid therapy, which is consistent with iatrogenic Cushing's syndrome. Salt wasters usually require fludrocortisone 50–200 μg/day. Prednisone doses in fully grown patients are typically 5–7. Increasing the dose of mineralcorticoid had a profound effect with A.S. reporting an absence of daily headaches and diminished salt cravings. Seven months later, sodium was 137 mmol/L, 17-OHP 1,090 ng/dl, androstenedione 54 ng/dl, and plasma renin 2.2 ng/ml per hour (M = 1.8). Blood pressure remained stable, weight increased only 1.3 kg, and waist and hip circumferences were decreased at 77 cm and 85 cm, respectively. Endocrine nurses need to be aware that treatment of SWCAH is a delicate balance between overtreatment and undertreatment. doi:10.1016/j.pedn.2011.04.012

INFORMATIONAL ABSTRACTS Vitamin D Deficiency in Youth With Endocrine Disorders: The Lack of Evidence Sarah Al Sawah PhD(c), MSc, RN, Terri Lipman PhD, CRNP, FAAN University of Pennsylvania

Vitamin D deficiency is markedly prevalent among U.S. youth. According to the National Health and Nutrition Examination Survey 2001–2004, vitamin D deficiency (defined in this study as 25hydroxyvitamin D b37 nmol/L) and insufficiency (defined in this study as 25-hydroxyvitamin D between 37 and 72 nmol/L) affects 9% and 61% of the pediatric population representing 7.6 and 50.8 million U.S. youth, respectively (Kumar et al., 2009). It is well established that vitamin D sufficiency is necessary for optimal bone growth and development. Furthermore, there has been a growing body of evidence that vitamin D deficiency is related to potential health outcomes such as increased risk of diabetes, altered immune responses, increased risk of cardiovascular disorders, and cancer. To date, vitamin D testing is not “standard of care” in youth with endocrine disorders, and thus, the true prevalence of vitamin D deficiency and the subsequent risk of potential health outcomes in this population remain unknown. Reasons may be (a) lack of sufficient evidence that supports vitamin D testing as standard of care in youth,

since most of the evidence comes from animal studies and studies of adults, and (b) lack of reliable evidence that supports the causal effect of vitamin D deficiency on potential health outcomes (Holick, 2007). A recent review by the Institute of Medicine called for the continuation of more targeted research to better understand the role of vitamin D in potential health outcomes. Pediatric endocrine providers should take the lead in this cutting edge research by (a) conducting cross-sectional studies to determine the prevalence of vitamin D deficiency in this population, (b) accurately assessing sun exposure and dietary intake of vitamin D, and (c) designing prospective studies where the causal link between vitamin D deficiency and potential health outcomes may be established. The knowledge gained from such research may be useful for establishing vitamin D testing as standard of care in youth with endocrine disorders and thus may decrease the risk of potential health outcomes in this population. Guidelines for the management of vitamin D deficiency in children are reviewed by Misra et al. (2008). doi:10.1016/j.pedn.2011.04.013 Treatment of Gonadal Failure in the Patient With Turner Syndrome— Recognizing the Changing Trend From Oral to Transdermal Therapy Paula Didrick, RN, Debbie LeMay, RN, Mary Kaye Mitscher, RN, Lori St. Dennis-Feezle, RN, Stephanie Stein-Woerner, RN, FNP-C Indiana University, Indianapolis, IN

Turner syndrome (TS) is a female disorder characterized by partial or complete absence of an X chromosome. Ovarian failure is a cardinal manifestation of TS. More than 90% of affected girls require hormone replacement therapy (HRT) for the initiation of puberty, secondary sexual development, uterine maturation, and bone mineral accrual (1,2). In 2007, the TS Consensus Study Group determined that the timing, form, and dosing of estrogen replacement regimens should reflect normal pubertal process (3). Oral conjugated equine estrogens (CEE) historically have been the most commonly prescribed estrogen for the induction of puberty in TS (4). However, current studies indicate a shift in practice from oral to transdermal HRT since the establishment of the guidelines. Recent evidence by Kaplowitz suggests increased transdermal estrogen therapy has occurred from findings indicating patches are more physiologic and not metabolized by the liver (5). In addition, transdermal patches provide a natural form of estrogen, 17βestradiol, which has better absorption and lower serum levels (6). This scientific data indicate transdermal estradiol provides the most physiologic replacement. Nabhan and Eugster retrospectively examined a large cohort of TS adolescents noting 87% had premature ovarian failure requiring HRT. Although the most prescribed form of estrogen was CEE, an increased trend in the use of transdermal patches occurred from 2007 to 2010. Prior to 2007, 10% of patients were on transdermal HRT; however, 78% were started on transdermal estrogen after 2007 (7). The changing trend from oral to transdermal therapy has nursing implications and requires patient/family education. Side effects of HRT to discuss include headache, breast pain, irregular vaginal bleeding/spotting, stomach/abdominal cramps, bloating, nausea/ vomiting, and alopecia (8–18). Transdermal HRT requires additional education and awareness. Multiple brands of patches require nurses to be aware of dosing regimens, adhesive allergies,