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International Journal of Pediatric Endocrinology

Laura Olbrich, Eva Schmidt, Ertan Mayatepek, Markus Vogel
BACKGROUND: We report the case of a 6 year old boy suffering from adenohypophysis aplasia as well as ectopic neurohypophysis and delayed diagnosis of familial Mediterranean fever (FMF). CASE PRESENTATION: The boy was diagnosed with panhypopituitarism during the neonatal period and suffered from recurrent episodes during the following years suggesting infections. He also showed signs of adrenal insufficiency. Finally, at the age of 6 years, an additional diagnosis of familial Mediterranean fever (FMF) was clinically suspected and later confirmed by molecular analysis...
2016: International Journal of Pediatric Endocrinology
Todd D Nebesio, Jamie L Renbarger, Zeina M Nabhan, Sydney E Ross, James E Slaven, Lang Li, Emily C Walvoord, Erica A Eugster
BACKGROUND: Little is known about the comparative effects of different glucocorticoids on the adrenal and growth hormone (GH) axes in children with congenital adrenal hyperplasia (CAH). We sought to compare the effects of hydrocortisone (HC), prednisone (PDN), and dexamethasone (DEX) in children with classic CAH and to investigate a potential role of pharmacogenetics. METHODS: Subjects were randomly assigned to three sequential 6-week courses of HC, PDN, and DEX, each followed by evaluation of adrenal hormones, IGF-1, GH, and body mass index (BMI)...
2016: International Journal of Pediatric Endocrinology
Vidya Puthenpura, Kinjal Desai, Andrew Bauer, Ian Marshall
BACKGROUND: Agranulocytosis is regarded as a rare side effect of methimazole (MMI) therapy that occurs in a dose dependent manner and that usually develops within the first 3-6 months of treatment. Although delayed development beyond this timeline has been documented in adults, very few children have been reported with this presentation. CASE PRESENTATION: We present a 6-year old patient who developed agranulocytosis 18 months after the start of MMI therapy. CONCLUSIONS: This is an unusual case of a 6-year old patient who developed this serious side effect on stable MMI therapy well beyond the typical timeline...
2016: International Journal of Pediatric Endocrinology
A J Arcari, M G Gryngarten, A V Freire, M G Ballerini, M G Ropelato, I Bergadá, M E Escobar
BACKGROUND: In girls with Idiopathic Central Precocious Puberty (ICPP) concern has been raised by the potential impact of GnRH-analogues (GnRHa) treatment on body weight. We evaluated the effect of GnRHa on Body Mass Index (BMI) in girls with ICPP according to weight status at diagnosis. METHODS: One hundred seventeen ICPP girls were divided according to pretreatment weight status in: normal weight (NW), overweight (OW) and obese (OB). BMI at one and two years of treatment was assessed...
2016: International Journal of Pediatric Endocrinology
Kelsee Halpin, Ryan McDonough, Patria Alba, Jared Halpin, Vivekanand Singh, Yun Yan
BACKGROUND: Insulinoma is a rare diagnosis in the general population with estimates of 1 in 250,000 people per year. Reports of these pancreatic islet cell tumors are even more unusual in children and adolescents. Chronic hypoglycemia due to an insulinoma often presents with neuroglycopenic symptoms that can easily be overlooked, especially in adolescents where nonspecific complaints are common. This may result in delayed diagnosis with prolonged periods of untreated hypoglycemia and associated complications...
2016: International Journal of Pediatric Endocrinology
Anne-Sophie Lambert, Pierre Bougneres
BACKGROUND: One third of infants with congenital hypogonadotropic hypogonadism (CHH) are said to have micropenis and/or bilateral or unilateral cryptorchidism leading many of them to orchiopexy. Our previous study in two patients suggests that prolonged subcutaneous infusion of large doses of gonadotropins might normalize testicular function and growth. CASE PRESENTATION: To confirm the effects of early and prolonged subcutaneous infusion of large doses of gonadotropins on growth and descent of the testes...
2016: International Journal of Pediatric Endocrinology
Chelsey Grimbly, Oana Caluseriu, Peter Metcalfe, Mary M Jetha, Elizabeth T Rosolowsky
BACKGROUND: 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) deficiency is a rare cause of disorder of sex development (DSD) due to impaired conversion of androstenedione to testosterone. Traditionally, the diagnosis was determined by βHCG-stimulated ratios of testosterone:androstenedione < 0.8. CASE PRESENTATION: An otherwise phenotypically female infant presented with bilateral inguinal masses and a 46,XY karyotype. βHCG stimulation (1500 IU IM for 2 days) suggested 17βHSD3 deficiency although androstenedione was only minimally stimulated (4...
2016: International Journal of Pediatric Endocrinology
Noor Shafina Mohd Nor, Muhammad Yazid Jalaludin
BACKGROUND: 47 XXY/46 XX mosaicism with characteristics suggesting Klinefelter syndrome is very rare and at present, only seven cases have been reported in the literature. CASE PRESENTATION: We report an Indian boy diagnosed as variant of Klinefelter syndrome with 47 XXY/46 XX mosaicism at age 12 years. He was noted to have right cryptorchidism and chordae at birth, but did not have surgery for these until age 3 years. During surgery, the right gonad was atrophic and removed...
2016: International Journal of Pediatric Endocrinology
Urania Dagalakis, Ashwini Mallappa, Meredith Elman, Martha Quezado, Deborah P Merke
BACKGROUND: Classic congenital adrenal hyperplasia (CAH) requires lifetime steroid replacement and supraphysiologic glucocorticoid dose is often required for adequate adrenal androgen suppression. Patients often suffer from long-term co-morbidities and female infertility is common. CASE PRESENTATION: We report the use of laparoscopic bilateral adrenalectomy as a treatment for a 21 year old female with classic simple virilizing CAH and infertility. She presented as an adolescent with increasing weight gain, amenorrhea and elevated adrenal androgens despite the use of dexamethasone (250 mcg given twice daily), and fludrocortisone (150 mcg daily)...
2016: International Journal of Pediatric Endocrinology
Paul B Kaplowitz
BACKGROUND: The subject of whether all girls with central precocious puberty (CPP) require brain imaging is controversial. FINDINGS: A review of the major papers concerning this topic published since 1994 was conducted looking primarily at the frequency of occult intracranial lesions, particularly brain tumors, in girls with CPP. While CNS abnormalities are frequently noted (8-15 %), the proportion of previously unknown findings requiring intervention in 6-8 year old girls is very small, in the range of 0-2 %...
2016: International Journal of Pediatric Endocrinology
Talia L Brown, David M Maahs, Franziska K Bishop, Janet K Snell-Bergeon, R Paul Wadwa
BACKGROUND: Women with type 1 diabetes (T1D) have a four-fold increased risk for cardiovascular disease (CVD) compared to non-diabetic (non-DM) women, as opposed to double the risk in T1D men compared to non-DM men. It is unclear how early in life CVD risk differences begin in T1D females. Therefore, our objective was to compare CVD risk factors in adolescents with and without T1D to determine the effects of gender on CVD risk factors. METHODS: The study included 300 subjects with T1D (age 15...
2016: International Journal of Pediatric Endocrinology
M Ahmid, V Fisher, A J Graveling, S McGeoch, E McNeil, J Roach, J S Bevan, L Bath, M Donaldson, G Leese, A Mason, C G Perry, N N Zammitt, S F Ahmed, M G Shaikh
BACKGROUND: Adolescents with childhood onset growth hormone deficiency (CO-GHD) require re-evaluation of their growth hormone (GH) axis on attainment of final height to determine eligibility for adult GH therapy (rhGH). AIM: Retrospective multicentre review of management of young adults with CO-GHD in four paediatric centres in Scotland during transition. PATIENTS: Medical records of 130 eligible CO-GHD adolescents (78 males), who attained final height between 2005 and 2013 were reviewed...
2016: International Journal of Pediatric Endocrinology
Carly Stewart, Pamela Garcia-Filion, Cassandra Fink, Anna Ryabets-Lienhard, Mitchell E Geffner, Mark Borchert
BACKGROUND: Hypopituitarism and obesity are causes of major lifelong morbidity in patients with optic nerve hypoplasia (ONH). Growth hormone deficiency (GHD) affects the majority of children with ONH, though the degree of deficiency and variability of early growth patterns range from early severe retardation to normal initial growth. The utility of early GH replacement for improving anthropometric, body composition, and lipid outcomes in patients with ONH and GHD, especially those with normal initial height velocity, is unknown...
2016: International Journal of Pediatric Endocrinology
Surendra Varma
The editor of International Journal of Pediatric Endocrinology would like to thank all of the reviewers who have contributed to the journal in 2015.
2016: International Journal of Pediatric Endocrinology
Mia Elbek Sømod, Esben Thyssen Vestergaard, Kurt Kristensen, Niels Holtum Birkebæk
BACKGROUND: Premature thelarche (PT) seems to be increasing and it is difficult to differentiate its early stages from precocious puberty (PP). Clinical and biochemical parameters are warranted to differentiate the two diagnoses. METHODS: One hundred ninety-one girls aged 0.5-7 years were included. Diagnoses were validated and the girls were categorized to the groups PP (n = 27) and PT (n = 164). Anthropometry, Tanner stages, ethnicity, bone age, and biochemistry, were recorded...
2016: International Journal of Pediatric Endocrinology
Janel D Hunter, Ali S Calikoglu
BACKGROUND: Central diabetes insipidus (CDI) results from a number of conditions affecting the hypothalamic-neurohypophyseal system to cause vasopressin deficiency. Diagnosis of CDI is challenging, and clinical data and guidelines for management are lacking. We aim to characterize clinical and radiological characteristics of a cohort of pediatric patients with CDI. METHODS: A chart review of 35 patients with CDI followed at North Carolina Children's Hospital from 2000 to 2015 was undertaken...
2016: International Journal of Pediatric Endocrinology
Ashby Walker, Desmond Schatz, Cathryn Johnson, Janet Silverstein, Shannon Lyles, Henry Rohrs
BACKGROUND: Parental support and care-coordination are vital for youth with type 1 diabetes (T1D) in achieving positive health outcomes. Yet, studies are rarely designed to identify factors that influence parent/youth collaboration or how their perspectives about diabetes may vary. METHODS: Photovoice was used to explore how adolescent and parental perspectives on T1D compare to identify factors that may influence care collaboration. A follow-up study was conducted where parents/caregivers of adolescents with T1D were prompted to take and explain five photos capturing what diabetes meant to them...
2016: International Journal of Pediatric Endocrinology
Wen Jiang, Robert O Newbury, Ron S Newfield
BACKGROUND: We reviewed our institutional experience in the diagnosis and management of pediatric thyroid nodules and well-differentiated thyroid carcinoma (WDTC), highlighting the unique challenges in this population. METHODS: IRB approved retrospective chart review was conducted on patients who underwent fine needle aspiration (FNA) or thyroid surgery from 1/1/2001 to 12/31/2010 at Rady Children's Hospital San Diego, a tertiary referral center in Southern California...
2016: International Journal of Pediatric Endocrinology
Mary Ellen Vajravelu, Jared Tobolski, Evanette Burrows, Marianne Chilutti, Rui Xiao, Vaneeta Bamba, Steven Willi, Andrew Palladino, Jon M Burnham, Shana E McCormack
BACKGROUND: Corticotropin-Releasing Hormone (CRH) testing is used to evaluate suspected adrenocorticotropic hormone (ACTH) deficiency, but the clinical characteristics that affect response in young children are incompletely understood. Our objective was to determine the effect of age and body size on cortisol response to CRH in children at risk for ACTH deficiency referred for clinical testing. METHODS: Retrospective, observational study of 297 children, ages 30 days - 18 years, undergoing initial, clinically indicated outpatient CRH stimulation testing at a tertiary referral center...
2015: International Journal of Pediatric Endocrinology
Mansi Kanhere, John Fuqua, Richard Rink, Christopher Houk, David Mauger, Peter A Lee
BACKGROUND/AIMS: Outcome information regarding females with classical congenital adrenal hyperplasia (CAH) have generally suggested poor quality of life (QoL), general maladjustment, problems regarding sexuality, and decreased fertility. The aim of this study was to assess QoL, psychosocial adaptation, and psychosexual characteristics, includingchildhood gender role behavior, gender identity, and sexual orientation in females with CAH. METHODS: Female patients with 21-hydroxylase deficiency CAH were evaluated using a questionnaire with items relating to knowledge of their condition and its therapy; consistency of medical, surgical, and psychological care; childhood friends and play behavior; and genital, pubertal, and sexual development...
2015: International Journal of Pediatric Endocrinology
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