Division Of Pediatric Endocrinology Research Articles

Meeting abstracts from the 15th international conference on neonatal and childhood pulmonary vascular disease

Meeting abstracts from the 15th international conference on neonatal and childhood pulmonary vascular disease

Failure to Thrive in a 15-month-old with a History of Head Trauma.

1. Alona S. Sukhina, MD*,†,‡ 2. Oliver J. Oatman, DO† 3. Kara S. Lewis, MD*,‡ 4. Theresa C. Thomas, PhD*,‡ 5. Danielle Brown, MS RN‡ 6. Rachel K. Rowe, PhD*,‡,§ 7. P. David Adelson, MD*,‡ 8. Jonathan Lifshitz, PhD*,‡,§ 1. *University of Arizona College of Medicine–Phoenix, Phoenix, AZ 2. †Division of Pediatric Endocrinology and Diabetes, 3. ‡Barrow Neurological Institute at Phoenix Children’s Hospital, Phoenix, AZ 4. §Phoenix Veterans’ Administration Healthcare System, Phoenix, AZ 1. Address correspondence to Alona S. Sukhina, MD, Phoenix Children’s Hospital,1919 E Thomas Rd, Phoenix, AZ 85016. E-mail: asukhina{at}phoenixchildrens.com A 15-month-old boy with a past medical history of 32-week prematurity presents with failure to thrive for the past 6 months. At the age of 6 months, he was treated for a traumatic brain injury (TBI) secondary to abusive head trauma that resulted in a right parietal bone fracture and a large accumulating right frontoparietal subdural hematoma, with substantial midline shift on head computed tomography (CT) scan imaging (Figs 1 and 2). In order to evacuate his subdural hematoma, a right frontal burr hole, frontal, and parietal subdural drains were placed. At the time of his TBI, his height was at the 12th percentile and weight was at the 40th percentile for age, adjusted for gestational age (Fig 3, point A). The patient had a ventriculoperitoneal shunt placement and drain removal and was discharged 24 days after his TBI admission. Other than poor growth, he has been doing well since discharge. Figure 1. Axial computed tomography (CT) scan obtained at 6 months without contrast demonstrating a large right frontoparietal subdural hematoma with mixed density acute and subacute blood products. There is substantial midline shift. Figure 2. A reconstructed three-dimensional computed tomography (CT) scan obtained at 6 months without contrast demonstrating a right linear parietal bone fracture overlying the subdural hematoma. Figure 3. World Health Organization (WHO) growth curves for length for age and weight for age, …

Integrating Continuous Glucose Monitor Data Directly into the Electronic Health Record: Proof of Concept.

Background: Continuous glucose monitoring (CGM) systems are widely and increasingly used in diabetes self-management and in the context of clinic visits. However, access to CGM data during visits can be challenging. Clinic inefficiencies can restrict the time available for patient education, and the inability to integrate CGM data into electronic health record (EHR) systems can result in data being lost. In this study, we describe our institution's approach to integrating CGM data directly into the EHR through a partnership with a CGM device manufacturer and without a third-party data aggregation/data visualization platform. Methods: We interviewed key stakeholders with the hospital Information Technology Department, the Division of Pediatric Endocrinology, and a CGM device manufacturer. A collaborative, human-centered design approach was used to define the workflow. Health Level 7 (HL7) standards were used to build all data exchanges. Results: In collaboration with all parties, we created a simple network architecture design for both account linkage and data acquisition. The system uses the standard, computerized, physician order entry interface available in the EHR for both processes. Data acquisition occurs in real time, and customized reports are displayed within the results section of the EHR. The entire process is Health Insurance Portability and Accountability Act (HIPAA) compliant and meets all security requirements. Conclusions: Building scalable data integration using HL7 standards is possible and allows real-time access to CGM data within the diabetes provider's existing workflow and can occur with or without the patient present. This may lead to improved clinical outcomes, increased efficiency, and new revenue opportunities by documenting CGM data capture and review.

Mental Health Disorders and Hyperthyroidism in the Pediatric Population.

* Abbreviation: ADHD — : attention-deficit/hyperactivity disorder Hyperthyroidism (particularly Graves’ disease) affects people of all ages, with symptomatology including restlessness and inability to focus, anxiety, weight loss, tachycardia, heat intolerance, diaphoresis, and diarrhea. The conventional wisdom is that symptoms resolve once the hyperthyroidism is adequately treated. However, authors of some reports suggest that with respect to mental health, this may not be the case. In this issue, Zader et al1 investigate this question and conclude that children with hyperthyroidism have a higher prevalence of attention-deficit/hyperactivity disorder (ADHD), adjustment disorder, anxiety, bipolar disorder, depression, and suicidality. The authors used the Military Health System Data Repository to identify children aged 10 to 18 years in the military system for ≥1 month who had International Classification of Diseases, Ninth Revision or International Classification of Diseases, 10th Revision codes for hyperthyroidism and the aforementioned mental health conditions. The Military Health System Data Repository included >2.5 million children, with a total of nearly 2500 children with hyperthyroidism during a 9-year interval. Compared with children without hyperthyroidism, the prevalence ratios of mental health conditions in those with hyperthyroidism ranged from … Address correspondence to Rebecca Schneider Aguirre, MD, PhD, Division of Pediatric Endocrinology, Riley Hospital for Children, 705 Riley Hospital Dr, Room 5960, Indianapolis, IN 46202. E-mail: rsaguirr{at}iupui.edu

Casting More Light on Pediatric Fractures.

* Abbreviation: BMD — : bone mineral density By 16 years of age, up to 40% of otherwise healthy girls and 64% of boys will have experienced ≥1 broken bone, with a peak incidence in the peri-pubertal years.1 Is this just because youth are active or risk takers? An alternative explanation is that the fastest rate of bone mineralization occurs several months after the most rapid gains in bone size during adolescence.2 The incidence of childhood fractures appears to be on the rise in both the United States and Scandinavia, raising concerns about unhealthy lifestyle trends.1 Addressing this public health problem requires an understanding of which children are fracturing bones and why. In the population-based retrospective study of emergency department visits from Ontario, Canada, in this issue of Pediatrics , Escott et al3 suggest the risk of a broken bone is not equal for all. The study compared the fracture incidence for those with or without a baseline fracture over a 7-year follow-up period. To focus on healthy youth (<16 years of age), children with osteogenesis imperfecta, low bone density, juvenile arthropathy, pathologic fracture, or a history of child abuse or neglect were excluded from … Address correspondence to Laura K. Bachrach, MD, Division of Pediatric Endocrinology, Stanford University School of Medicine, 300 Pasteur Dr, Stanford, CA 94305-5208. E-mail: lkbach{at}stanford.edu

The prevalence and volumetry of pituitary cysts in children with growth hormone deficiency and idiopathic short stature.

Background Pituitary cysts have been speculated to cause endocrinopathies. We sought to describe the prevalence and volumetry of pituitary cysts in patients with growth hormone deficiency (GHD) and idiopathic short stature (ISS). Methods Six hundred and eighteen children evaluated for growth failure at the Division of Pediatric Endocrinology at New York Medical College between the years 2002 and 2012, who underwent GH stimulation testing and had a brain magnetic resonance imaging (MRI) prior to initiating GH treatment were randomly selected to be a part of this study. High resolution MRI was used to evaluate the pituitary gland for size and the presence of a cyst. Cyst prevalence, cyst volume and percentage of the gland occupied by the cyst (POGO) were documented. Results Fifty-six patients had a cyst, giving an overall prevalence of 9.1%. The prevalence of cysts in GHD patients compared to ISS patients was not significant (13.5% vs. 5.7%, p=0.46). Mean cyst volume was greater in GHD patients than ISS patients (62.0 mm3 vs. 29.4 mm3, p=0.01). POGO for GHD patients was significantly greater (p=0.003) than for ISS patients (15.3%±12.8 vs. 7.1%±8.0). Observers were blinded to patient groups. Conclusions GHD patients had a significantly greater volume and POGO compared to ISS patients. This raises the question of whether cysts are implicated in the pathology of growth failure.

How Low Can You Go? Does Lower Carb Translate to Lower Glucose?

* Abbreviations: HbA1c — : hemoglobin A1c T1D — : type 1 diabetes VLCD — : very low–carbohydrate diet I once asked the father of 1 of my patients with type 1 diabetes (T1D) to reflect on the advice provided to his family at diagnosis by the diabetes team, and he responded: “You should never have told us that our son can eat anything he wants. It’s just not true.” He was referring to the nutrition education provided, in which we typically tell families that any carbohydrate can simply be matched by insulin. This is reflective of the fact that endocrinologists have traditionally focused on the adjustment of insulin rather than diet as a primary means for controlling glucose levels; for example, the 2018 Standards of Medical Care in Diabetes for children and adolescents does not even address dietary management.1 This gap is partly due to the lack of evidence regarding outcomes of optimal dietary strategies for improving glycemia in T1D. This is why the recent study by Lennerz et al,2 in which they looked at glycemic outcomes of individuals with T1D on a very low–carbohydrate diet (VLCD), is an important contribution to the literature. The authors enrolled 316 participants from a closed Facebook community of adults with T1D and parents of children with T1D who follow recommendations outlined in the book Dr Bernstein’s Diabetes Solution .3 Only participants who self-reported following the recommendation for a VLCD (≤30 g per day from mostly fibrous … Address correspondence to Joyce M. Lee, MD, MPH, Division of Pediatric Endocrinology and Health Services Research, Child Health Evaluation and Research Unit, University of Michigan, 300 NIB, Room 6E14, Campus Box 5456, Ann Arbor, MI 48109-5456. E-mail: joyclee{at}med.umich.edu

Case 2: Rapid Growth and Abnormal Menstrual Bleeding in a 17-year-old Girl

1. Rajan Senguttuvan, MD* 2. Cindy Chin, MD† 3. Salaheddin Elrokhsi, MD‡ 4. Mark Wheeler, MD§ 1. *Division of Endocrinology, Children’s Hospital of Michigan, Detroit, MI 2. †Division of Pediatric Endocrinology, University of Arizona, Tucson, AZ 3. ‡Division of Endocrinology, Children’s Hospital and Medical Center, Omaha, NE 4. §Division of Pediatric Endocrinology, University of Arizona, Tucson, AZ A 17-year-old girl presents for concerns of growing too fast and having continuous menstrual bleeding for the past 4 months. Per her adoptive mother, she has been growing fast since the beginning of adolescence and is continuing to grow taller. Four months before her visit, she began having excessive and continuous menstrual bleeding. She was seen by a gynecologist a month before the current visit and was started on an oral contraceptive pill. However, her menstrual bleeding continues. She reports no visual disturbances, headaches, nausea, vomiting, weakness or numbness in the upper/lower extremities, or galactorrhea. On review of her records, her height has been at greater than the 97th percentile since 11 years of age (Fig 1). Her medical history is significant for mild scoliosis, sleep apnea, and anemia, as well as tonsillectomy and adenoidectomy at 16 years of age. Her social history is complicated by the early death of her biological mother and a history of mental illness in both biological parents. Figure 1. Growth charts show that the height has been at greater than the 97th percentile since 11 years of age and that weight followed the trend after 13 years of age. …

Health Disparities Facing Transgender and Gender Nonconforming Youth Are Not Inevitable.

* Abbreviation: TGNC — : transgender and gender nonconforming Although reports of health disparities are sobering, poor physical and mental health is not inevitable for transgender and gender nonconforming (TGNC) youth. It is true that data from a retrospective cohort study quantify disparities in mental health outcomes, revealing a two- to threefold increase in the risk of negative mental health outcomes in transgender youth, including depression, suicidal ideation, and suicide attempt.1 It is also true that the National Transgender Discrimination Survey, which is administered to adults, revealed the disheartening statistic that 41% of TGNC respondents had attempted suicide in their lifetimes in contrast with ∼1.6% of the general population who have done so.2 However, research that is focused on well-supported TGNC youth helps dispel the idea that simply being transgender is the cause of poor health outcomes. For example, long-term outcome data from the Netherlands demonstrate that children with gender dysphoria who were treated in a comprehensive gender center with gender-affirming treatment during … Address correspondence to Daniel Shumer, MD, MPH, Division of Pediatric Endocrinology, Department of Pediatrics, University of Michigan, 1500 E Medical Center Dr, SPC 5718 D1205 MPB, Ann Arbor, MI 48109-5718. E-mail: dshumer{at}med.umich.edu

Processed Food—An Experiment That Failed

Processed Food—An Experiment That Failed

Evaluation and Initial Management of Hypopituitarism.

1. Melinda Pierce, MD* 2. Lisa Madison, MD* 1. *OHSU Department of Pediatrics, Division of Pediatric Endocrinology, Portland, OR. Signs and symptoms of hypopituitarism, in particular diabetes insipidus and decreased linear growth velocity, are frequently overlooked in patients with craniopharyngioma. (1) After completing this article, readers should be able to: 1. Describe the various pathophysiologic causes associated with hypopituitarism, including craniopharyngioma. 2. Recognize the clinical features of pituitary hormone deficiencies. 3. Describe the principles of hormone replacement therapy for hypopituitarism. Hypopituitarism affects between 1 in 4,000 and 1 in 10,000 live births, with increasing incidence with age. (2) The pituitary, sometimes referred to as the master gland, is positioned in the anterior midline of the brain in the sella turcica. The pituitary controls endocrine function through the release of multiple hormones that can have a direct growth effect on target tissue (trophic effects) or stimulate that tissue to release a hormone that has its effects on other tissues (tropic effects). The anterior pituitary forms as an outpouching of the embryonic oral cavity (Rathke pouch). It is responsible for the release of growth hormone (GH), corticotropin, thyrotropin, prolactin, and the gonadotropins luteinizing hormone (LH) and follicle-stimulating hormone (FSH). The posterior pituitary is composed of neuronal projections from the hypothalamus and is responsible for the storage and secretion of oxytocin and antidiuretic hormone (ADH). This article examines the pathologic causes of pituitary dysfunction, their diagnosis, and treatment. ### Congenital Congenital hypopituitarism most often results from genetic or embryologic pathologies. Septo-optic dysplasia (SOD) is the most common congenital cause of hypopituitarism, with an incidence as high as 1 in 10,000. SOD results in variable hormonal deficiencies, absence of the septum pellucidum (Figure), and hypoplasia of the optic nerves, often resulting in blindness. (3) Although SOD can be …

Diabetic hypertensive patients have a blood pressure to wake up and arterial stiffness significantly higher than those not diabetic at similar ages

Human natriuretic peptide clearance receptor is induced by insulin and is associated with metabolic parameters Marica Bordicchia, Monica Ceresiani, Antonella Pocognoli, Marianna Pavani, Giovanni Muzzonigro, Massimo Polito, Martin Wabitsch, Valentina Cannone, John C. Burnett, Jr., Paolo Dess i-Fulgheri, Riccardo Sarzani. Cardiorenal Research Laboratory, Division of Cardiovascular Diseases, Department of Medicine and Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, United States; Department of Urology, UNIVPM, Ancona, Italy; Division of Pediatric Endocrinology and Diabetes, Interdisciplinary Obesity Unit, Department of Pediatrics and Adolescent Medicine, Ulm University, Ulm, Germany; Internal Medicine and Geriatrics, ‘‘Hypertension Excellence Centre’’ of the European Society of Hypertension, Department of Clinical and Molecular Sciences, UNIVPM, Italian National Research Centre on Aging ‘‘U.Sestilli’’, IRCCS-INRCA, Ancona

011–Transition of Endocrine Diagnostic Testing from the Endocrine Clinic to a Pediatric Infusion Center

Background: The Division of Pediatric Endocrinology at a large urban teaching hospital used clinic space to perform diagnostic testing on pediatric patients with suspected endocrine disorders. There were many barriers to providing optimal care in this setting. The space being utilized was small and under staffed. The scheduling process for diagnostic testing lacked standardization of process, causing miscommunications between clinic staff, providers and families. Patients inadvertently missed appointments or came inappropriately prepared. Ordering and documentation of the testing used a paper system making it non-compliant with the hospital electronic medical record (EMR) system. The clinic and hospital administration decided to move the testing to the pediatric infusion center creating an opportunity to address systems issues with the diagnostic testing of pediatric endocrinology patients. Purpose: To develop a process to transition endocrine diagnostic testing from the endocrine clinic to the pediatric infusion center. Documentation of testing and ordering of medications and lab work would also need to be adapted to the Electronic Medical Record (EMR) system for compliance. Project: This was a quality improvement project that was carried out over a six-month period. Stakeholders were identified and an interdisciplinary team was formed to develop the plan and direct the transition. The team was led by an endocrine Pediatric Nurse Practitioner and Doctor of Nursing Practice student. The infusion center had pediatric nursing staff to perform testing and a seamless scheduling process. To avoid confusion for parents, a process for scheduling testing was developed which included appropriate patient preparation and pre testing instructions, directions to the unit, and pre-registration information. Implications for Nursing: Complex medical healthcare systems are dynamic and continually evaluating efficiency and cost effective provision of healthcare. This project is an example of the effective use of the role of the Doctor of Nursing Practice specializing in pediatric endocrinology in the identification and implementation of a quality improvement project to improve the quality of care for patents, while maintaining individualized cost effective care.

Bigger but not stronger? GH treatment in Turner syndrome may confer no benefit to HR-pQCT determined bone micro-architecture

Bigger But Not Stronger? Growth Hormone Treatment in Turner Syndrome May Confer No Benefit to HR-pQCT Determined Bone Micro-Architecture Munier A. Nour1,2, Steven K. Boyd2, Rebecca J. Perry1,2, David K. Stephure1,2, David A. Hanley2,3 1. Division of Pediatric Endocrinology, Alberta Children's Hospital 2. Department of Medicine, University of Calgary 3. Division of Endocrinology and Metabolism, University of Calgary; Calgary, AB, Canada

Influence of the glycemic index and glycemic load of the diet in the glycemic control of diabetic children and teenagers.

Evaluate the influence of the glycemic index (GI) and glycemic load (GL) of the diet in the glycemic control of children and teenagers with type 1 diabetes mellitus (DM1). A total of 146 subjects, aged 7-19 years, monitored at the Division of Pediatric Endocrinology at the HC/UFMG participated in the study. The consumed diet was evaluated using a quantitative food frequency questionnaire previously validated and tested in a pilotproject. The GI of the participant's diet was estimated according to the equation described by Wolever and Jenkins (1986). The GL was estimated using the equation proposed by Foster-Powell et al. (2002). The glycemic control was classified as good, intermediate or poor according to the average of two HbA1c values obtained six months prior to the dietary evaluation date. Subjects that had good glycemic control consumed diets with significantly (Tukey test, p = 0.000) lower GI/GL (54.8 ± 2.7/118.3 ± 29.8) than the ones with intermediate (60.1 ± 3.8/142.5 ± 27.3) and poor (60.3 ± 4.1/153.7 ± 40.7) glycemic control. The diet consumed by 75.5% of diabetics with good glycemic control was classified as medium GL, suggesting that the consumption of medium GL diet may favor an adequate glycemic control. The low GI diet consumed by these participants also presented higher protein content, which might have contributed to the attenuation of the postprandial glycemic response and better glycemic control of these patients. The intake of a reduced GI/GL diet favors the glycemic control of the studied population.

Approach to Lipid Screening as a Risk Marker for Cardiovascular Disease in Pediatric Patients with Diabetes

Cardiovascular disease (CVD) is a well-known complication of diabetes mellitus (DM), and patients with DM are at an increased risk for early onset of CVD. Hyperglycemia is believed to be the primary mediator in premature development of atherosclerosis in patients with DM, but there are also derangements in cholesterol levels and inflammatory markers beyond the explanation of hyperglycemia. Although clinicians often screen for dyslipidemia as part of routine care for children and adolescents with DM, many do not feel comfortable treating this condition. Multiple guidelines exist to help clinicians with the prevention, screening, and treatment of CVD risk factors in pediatric patients with DM, but the guidelines do not always agree on screening intervals or medical treatment. Furthermore, the cost-effectiveness of medication use in this population has not been established. Research has advanced our understanding of the role of other biomarkers and radiologic studies of CVD risk, but these studies do not currently have a place in routine clinical practice. It is evident that the increased CVD risk in pediatric patients with DM is complex in origin and the optimal approach to managing dyslipidemia remains unclear. Therefore, an algorithm designed at the University of North Carolina (UNC), Division of Pediatric Endocrinology, is presented to help guide clinicians through screening and treatment of dyslipidemia in youth with DM.

Dysfunctional Uterine Bleeding in Adolescent Females Associated with Endocrine Causes and Medical Conditions

Dysfunctional Uterine Bleeding in Adolescent Females Associated with Endocrine Causes and Medical Conditions Delese E. LaCour, MD, Dominique N. Long, MD, and Sally E. Perlman, MD Division of Pediatric and Adolescent Gynecology, Department of Obstetrics, Gynecology, and Women’s Health, University of Louisville. Louisville, Kentucky; Division of Pediatric Endocrinology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; deceased

Hypothyroidism in Children

1. Debra Counts, MD* 2. Surendra K. Varma, MD† 1. *Associate Professor of Pediatrics; Chief, Division of Pediatric Endocrinology, Department of Pediatrics, University of Maryland School of Medicine, Baltimore, Md 2. †Editorial Board After completing this article, readers should be able to: 1. Describe the causes of hypothyroidism in infants and children. 2. Discuss the clinical presentation of and diagnostic approach to hypothyroidism. 3. Differentiate nonthyroidal illness low triiodothyronine (T3) syndrome from hypothyroidism. 4. Identify thyroid-binding globulin deficiency as a euthyroid state. 5. Recognize the importance of treatment and implications of inadequate treatment of hypothyroidism in the neonate and young child. Thyroid hormone is essential to growth and neurologic development in childhood. The thyroid begins to take shape at 7 weeks’ gestation, and thyroid hormone (T4, thyroxine) is produced starting at 12 weeks’ gestation. Thyroid dysfunction in the neonate, infant, or child has a significant impact on development. The goal of treatment is to assure normal growth and avoid developmental delay. ### Definition Neonatal hypothyroidism results from decreased T4 production in a newborn. It is the most preventable cause of potential intellectual disability. T4 is critical to the myelinization of the central nervous system (CNS) during the first 3 years after birth. In the healthy term baby, serum thyroid-stimulating hormone (TSH) concentrations normally rise abruptly to 60 to 80 mU/L within 30 to 60 minutes after delivery. The serum TSH concentration then decreases rapidly to about 20 mU/L by 1 day of age and subsequently more slowly to 6 to 10 mU/L by 1 week of age. This surge in TSH stimulates T4 secretion, with serum T4 concentrations peaking at 24 to 36 hours of age at 10 to 22 mcg/dL (128.7 to 283.2 nmol/L). Serum T3 concentrations also rise simultaneously to about 250 ng/dL (3.9 nmol/L), due to increased conversion of T4 to T3 in peripheral tissues and thyroidal secretion. T4, free T4, and T3 concentrations gradually fall in the first 4 weeks after birth to total T4 concentrations of 7 to 16 mcg/dL (90.1 to 205.9 nmol/L), free …

Congenital Adrenal Hyperplasia: Diagnosis, Evaluation, and Management

1. Zoltan Antal, MD* 2. Ping Zhou, MD† 1. *Fellow 2. †Assistant Professor, Division of Pediatric Endocrinology, Department of Pediatrics, Albert Einstein College of Medicine, Bronx, NY After completing this article, readers should be able to: 1. Describe the pathophysiology of congenital adrenal hyperplasia (CAH). 2. Characterize the signs and symptoms of CAH. 3. Describe the appropriate laboratory evaluation of CAH. 4. Know that CAH can be diagnosed prenatally. 5. Recognize adrenal insufficiency by laboratory and clinical evaluation. 6. Anticipate and plan treatment for both acute adrenal crisis and long-term therapy for a patient who has CAH. 7. Discuss the value of newborn screening for salt-losing CAH in male infants. Congenital adrenal hyperplasia (CAH) refers to a family of inherited disorders of adrenal steroidogenesis. The common functional defect in each disorder is impaired cortisol secretion, resulting in hypersecretion of corticotropin-releasing hormone (CRH) and adrenocorticotropic hormone (ACTH) and consequent hyperplasia of the adrenal glands. More than 90% of cases of CAH are caused by a defect in the enzyme 21-hydroxylase (21-hydroxylase deficiency [21OHD]). Four other enzyme deficiencies in the steroid biosynthesis pathway, along with one cholesterol transport protein defect, account for the remaining cases. Depending on the severity of the enzyme deficiency, 21OHD is defined as classic (severe form) or nonclassic (mild form). Approximately 75% of patients who have the classic form also have salt wasting due to inadequate aldosterone production, further subdividing the classification into classic simple virilizing and classic salt-wasting forms. This review highlights the diagnosis and treatment of 21OHD, with a brief discussion of the other forms of CAH. A Hispanic baby girl is born at term, has a birthweight of 3.1 kg, and has ambiguous genitalia (Fig. 1). During the first week after birth, the baby is clinically stable but demands frequent feeding. On the sixth postnatal day, serum electrolyte measurements are normal. Additional evaluation reveals female internal organs on pelvic ultrasonography and female karyotype. Newborn screening results show 17-hydroxyprogesterone (17-OHP) values of 180 and 679 ng/mL 2 and 5 days …

Type 1 Diabetes Mellitus in Pediatrics

1. David W. Cooke, MD* 2. Leslie Plotnick, MD† 1. *Associate Professor, Department of Pediatrics, Division of Pediatric Endocrinology, Johns Hopkins University School of Medicine, Baltimore, Md 2. †Professor, Department of Pediatrics, Division of Pediatric Endocrinology, Johns Hopkins University School of Medicine, Baltimore, Md After completing this article, readers should be able to: 1. Describe the pathogenesis of type 1 diabetes. 2. Identify acute and chronic complications of type 1 diabetes. 3. Discuss management options and treatment goals for type 1 diabetes. Diabetes mellitus is a disorder of the metabolic homeostasis controlled by insulin, resulting in abnormalities of carbohydrate and lipid metabolism. Type 1 diabetes (also called juvenile-onset diabetes mellitus and insulin-dependent diabetes mellitus) is caused by an absolute insulin deficiency, the result of a loss of the insulin-producing beta cells of the pancreas. Type 2 diabetes mellitus is characterized by two underlying defects. The earliest abnormality in an individual who develops type 2 diabetes mellitus is insulin resistance, which initially is compensated for with an increase in insulin secretion. Type 2 diabetes mellitus then develops due to a defect in insulin secretion that prevents such secretion from matching the increased requirements imposed by the insulin-resistant state. Thus, diabetes mellitus always is caused by insulin deficiency: in type 1 diabetes mellitus, the deficiency is absolute; in type 2 diabetes mellitus, the deficiency is relative. Although the percentage of cases of diabetes in children and adolescents caused by type 2 diabetes has risen in the past 1 to 2 decades, type 1 diabetes remains the most common form of diabetes mellitus in children. Recombinant insulin analogs, insulin pumps, and newer devices for home monitoring have drastically improved the ability to control glucose concentrations in patients who have diabetes. However, the feedback control in the healthy state that allows minute-to-minute regulation of insulin secretion cannot be recapitulated with current diabetes therapies, making full metabolic normalization not yet possible. Thus, some degree of hyperglycemia persists in virtually all patients who have diabetes. Long-term complications, including renal failure, retinopathy, neuropathy, and cardiovascular disease, are related to and likely caused by the …