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International Journal of Pediatric Endocrinology
Anjumanara Anver Omar, Godfrey Nyaga, Lucy N Wainaina Mungai
BACKGROUND: Gonadotropin releasing hormone agonists (GnRHa) are well established as a standard of care for the treatment of central precocious puberty (CPP) worldwide. While numerous delivery systems and routes of administration exist, depot intramuscular injections or sustained-release preparations have been most widely used. Leuprolide acetate is well tolerated among children though some can develop some complications. CASE PRESENTATION: We present a case report of a 6...
December 3, 2020: International Journal of Pediatric Endocrinology
Salwa A Musa, Areej A Ibrahim, Samar S Hassan, Matthew B Johnson, Asmahan T Basheer, Ali M Arabi, Mohamed A Abdullah
BACKGROUND: Fanconi-Bickel syndrome (FBS) is a rare condition of carbohydrate metabolism, caused by a recessive defect in the facilitative glucose transporter GLUT2 encoded by the SLC2A2 gene and characterized by a wide spectrum of phenotypical features. There is a paucity of reported data on FBS from Sub-Saharan Africa. Here, we describe the clinical, biochemical and genetic characteristics of our patients with FBS from Sudan, a country with a high consanguinity rate. PATIENTS & METHODS: Eleven patients from ten unrelated Sudanese families were included...
November 23, 2020: International Journal of Pediatric Endocrinology
Moris Angulo, M Jennifer Abuzzahab, Alberto Pietropoli, Vlady Ostrow, Nicky Kelepouris, Maithe Tauber
BACKGROUND: Growth hormone (GH) deficiency is common in patients with Prader-Willi syndrome (PWS) and leads to short adult stature. The current study assessed clinical outcomes based on real-world observational data in pediatric patients with PWS who were treated with GH. METHODS: Data from patients previously naïve to treatment with GH who began therapy with somatropin were collected from 2006 to 2016 in the observational American Norditropin® Studies: Web-Enabled Research (ANSWER) Program® and NordiNet® International Outcome Study...
November 10, 2020: International Journal of Pediatric Endocrinology
Bradley S Miller, Judith Ross, Vlady Ostrow
BACKGROUND: Treatment of children with growth hormone deficiency (GHD) or idiopathic short stature (ISS) using GH is only effective for bone growth prior to epiphyseal fusion. Aromatase inhibitor therapy (AIT) blocks estrogen production, thereby delaying epiphyseal fusion. The current study analyzed baseline characteristics and longitudinal data of male patients with GHD or ISS who were treated with GH and concomitant AIT. METHODS: Data were obtained from the observational American Norditropin® Studies: Web-Enabled Research (ANSWER) Program, which collected efficacy and safety data of patients treated with Norditropin®...
2020: International Journal of Pediatric Endocrinology
Kimberley Bonouvrie, Jutte van der Werff Ten Bosch, Machiel van den Akker
Objective: The most common presentation of Klinefelter syndrome (KS) is infertility and features of hypogonadism. Currently no consensus exists on the risk of malignancy in this syndrome. Several case reports show an incidence of extragonadal germ cells tumors (eGCT) of 1.5 per 1000 KS patients (OR 50 against healthy population). Malignant germ cell tumors are rare in children. They account for 3% of all children cancers. Young patients with a germ cell tumor are not routinely tested for Klinefelter syndrome...
2020: International Journal of Pediatric Endocrinology
Jasmine Gujral, Gertrude Costin, Divya Khurana, Mabel Yau, Elizabeth Wallach, Christopher J Romero, Meredith Wilkes, Swathi Sethuram, Robert Rapaport
BACKGROUND: Antifungals act on fungal sterols structurally similar to human cholesterol. Ketoconazole reversibly suppresses steroidogenesis by inhibiting cytochrome P450 enzymes and interferes with dihydrotestosterone (DHT) activity by binding to the androgen receptor. Hypospadias was reported in infants exposed to nystatin in utero. CASE PRESENTATION: A male infant exposed to antepartum nystatin presented with severe under-undervirilization and transient adrenal corticosteroid abnormalities...
2020: International Journal of Pediatric Endocrinology
Daphne Yau, Ria Marwaha, Klaus Mohnike, Rakesh Sajjan, Susann Empting, Ross J Craigie, Mark J Dunne, Maria Salomon-Estebanez, Indraneel Banerjee
BACKGROUND: Congenital Hyperinsulinism (CHI) is an important cause of severe hypoglycaemia in infancy due to excessive, dysregulated insulin secretion. In focal CHI, a localised lesion within the pancreas hypersecretes insulin and, importantly, hypoglycaemia resolution is possible through limited surgical resection of the lesion. Diagnosis of focal CHI is based on a crucial combination of compatible genetics and specialised imaging. Specifically, a focal lesion arises due to a paternal mutation in one of the ATP-sensitive potassium channel genes, KCNJ11 or ABCC8 , in combination with post-zygotic loss of maternal heterozygosity within the affected pancreatic tissue...
2020: International Journal of Pediatric Endocrinology
Whei Ying Lim, Emily L Germain-Lee, Nancy S Dunbar
Background: Acrodyostosis type 1 (ACRDYS1) is a rare skeletal dysplasia, and sometimes it can be misdiagnosed as pseudohypoparathyroidism type 1A (PHP1A), a subtype of Albright hereditary osteodystrophy (AHO), due to overlapping features. Growth hormone releasing hormone (GHRH) resistance with severe short stature is common in both ACRDYS1 and PHP1A (Emily L. Germain-Lee, et al. J Clin Endocrinol Metab, 88:4059-4069, 2003). Whereas growth hormone (GH) treatment has been studied in patients with PHP1a, the same is not true for the rarer ACRDYS1...
2020: International Journal of Pediatric Endocrinology
Joke Van Vlaenderen, Karl Logghe, Eva Schiettecatte, Hubert Vermeersch, Wouter Huvenne, Kathleen De Waele, Hanne Van Beveren, Jo Van Dorpe, David Creytens, Jean De Schepper
Case presentation: We report for the first time a synchronous papillary and follicular thyroid carcinoma in a 12-year-old girl presenting with a large (5 cm diameter) left thyroid nodule, an increased left and right upper pole technetium tracer uptake at scintigraphy and hyperthyroidism. The uptake at the right lobe was explained by the crossing of the left nodule to the right site of the neck at Computed Tomography (CT) scanning. Background: Although thyroid nodules are less common in children than in adults, there is more vigilance required in children because of the higher risk of malignancy...
2020: International Journal of Pediatric Endocrinology
Joanna Yuet-Ling Tung, Sophie Hon Yu Lai, Sandy Leung Kuen Au, Kit San Yeung, Anita Sik Yau Kan, Florence Loong, Diva D DeLeón, Jennifer M Kalish, Arupa Ganguly, Brian Hon Yin Chung, Kelvin Yuen Kwong Chan
Background: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome with variable clinical phenotype and complex molecular aetiology. It is mainly caused by dysregulation of the chromosome 11p15 imprinted region, which results in overgrowth in multiple tissues, often in a mosaic manner. Case presentation: A large-for-gestational-age infant without any other somatic features of BWS presented with medically refractory hyperinsulinism (HI) requiring 80% pancreatectomy...
2020: International Journal of Pediatric Endocrinology
Seok Jin Kang, Jin Gon Bae, Shin Kim, Jae Hyun Park
Background: We investigated whether leptin during the third trimester was associated with fetal growth compared to IGF-1. Methods: One hundred five appropriate-for-gestational-age (AGA) infants born at ≥28 weeks' gestation were enrolled. Cord blood leptin and insulin like growth factor 1 (IGF-1) were collected simultaneously during delivery. Enrolled infants were stratified into three groups according to GA as follows: 28 to < 34 weeks' gestation, very preterm (VP); 34 to < 37 weeks' gestation, late preterm (LP); and 37 to < 41 weeks' gestation, term...
2020: International Journal of Pediatric Endocrinology
Grace Kim, Daniel DeSalvo, Danielle Guffey, Charles G Minard, Constance Cephus, Douglas Moodie, Sarah Lyons
Background: Youth onset type 1 diabetes (T1D) and type 2 diabetes (T2D) is increasing and associated with earlier vascular complications and mortality. Dyslipidemia is an important modifiable cardiovascular (CVD) risk factor that is under-recognized and undertreated in youth with T1D and T2D. Given this, we evaluated the prevalence and associations between lipid concentrations and clinical CVD risk factors in youth with T1D compared to T2D at our large ethnically diverse diabetes center...
2020: International Journal of Pediatric Endocrinology
Abby M Walch, Carmen E Cobb, Shirng-Wern Tsaih, Susanne M Cabrera
Background: The transition process from pediatric to adult care in individuals with T1D has long-term ramifications on health outcomes. Recognition of differences in care delivery and changes made in management during this time may improve the process. We hypothesized that pediatric providers would be less likely to address T1D-related comorbidities than their adult counterparts, highlighting opportunities to strengthen care. Methods: A retrospective chart review of patients aged 16-21 years diagnosed with T1D before age 18 was performed...
2020: International Journal of Pediatric Endocrinology
Sunitha R Sura, Emily L Germain-Lee
Background: Progressive Familial Intrahepatic Cholestasis Type 2 (PFIC2) is a rare congenital cholestatic liver disease that progresses to end stage liver disease. It is associated with fat soluble vitamin D deficiency rickets and severe dyslipidemia; however, treatment of these secondary effects remains a challenge. Case presentation: One year old twin males born to a mother with intrahepatic cholestasis during pregnancy presented with jaundice, pruritus and failure to thrive...
2020: International Journal of Pediatric Endocrinology
Christal Achille, Tenille Taggart, Nicholas R Eaton, Jennifer Osipoff, Kimberly Tafuri, Andrew Lane, Thomas A Wilson
Background/aims: Transgender youths experience high rates of depression and suicidal ideation compared to cisgender peers. Previous studies indicate that endocrine and/or surgical interventions are associated with improvements to mental health in adult transgender individuals. We examined the associations of endocrine intervention (puberty suppression and/or cross sex hormone therapy) with depression and quality of life scores over time in transgender youths. Methods: At approximately 6-month intervals, participants completed depression and quality of life questionnaires while participating in endocrine intervention...
2020: International Journal of Pediatric Endocrinology
Joshua Glass, Jennifer Osipoff
Background: Thyrotoxic periodic paralysis is a rare complication of hyperthyroidism and is associated with hypokalemia and muscle paralysis. This condition is most commonly seen in Asian men. Case presentation: We report on a 14-year-old African American male with Graves' disease and intermittent asthma who presented with bilateral leg weakness. The patient demonstrated signs of thyrotoxicosis and laboratory evaluation revealed hypokalemia and hyperthyroidism. Following the administration of potassium supplementation clinical status improved and the patient was discharged home on a high dose of methimazole and propranolol...
2020: International Journal of Pediatric Endocrinology
Simeon-Pierre Choukem, Joel Noutakdie Tochie, Aurelie T Sibetcheu, Jobert Richie Nansseu, Julian P Hamilton-Shield
Introduction: Recently, childhood and adolescence overweight/obesity has increased disproportionately in developing countries, with estimates predicting a parallel increase in future cardiovascular disease (CVD) burden identifiable in childhood and adolescence. Identifying cardiovascular risk factors (CVRF) associated with childhood and adolescence overweight/obesity is pivotal in tailoring preventive interventions for CVD. Whilst this has been examined extensively in high-income countries, there is scant consistent or representative data from sub-Saharan Africa (SSA)...
2020: International Journal of Pediatric Endocrinology
Christy Foster, Alicia Diaz-Thomas, Amit Lahoti
BACKGROUND: Premature adrenarche has been described as clinical and biochemical hyperandrogenism before the age of 8 years in girls and 9 years in boys and absence of signs of true puberty. Adrenal pathology such as adrenal tumors or non-classical congenital adrenal hyperplasia (NCCAH) and exogenous androgen exposure need to be excluded prior to diagnosing (idiopathic) premature adrenarche. Premature adrenarche is more common among black girls compared to white girls and other racial groups...
2020: International Journal of Pediatric Endocrinology
Salma R Ali, Zoe Macqueen, Melissa Gardner, Yiqiao Xin, Andreas Kyriakou, Avril Mason, M Guftar Shaikh, Sze C Wong, David E Sandberg, S Faisal Ahmed
Background: There is a paucity of tools that can be used in routine clinical practice to assess the psychosocial impact of Disorders/Differences of Sex Development (DSD) on parents and children. Objective: To evaluate the use of short Parent Self-Report and Parent Proxy-Report questionnaires that can be used in the outpatient setting. Methods: Previously validated DSD-specific and generic items were combined to develop a Parent Self-Report questionnaire and a Parent Proxy-Report questionnaire for children under 7 years...
2020: International Journal of Pediatric Endocrinology
Anne Rochtus, Joseph Vinckx, Francis de Zegher
BACKGROUND: Intracranial lipomas are rare, congenital lesions, most often located at the midline. Most hypothalamic lipomas are asymptomatic, but some cases have been associated with precocious puberty, hypothermia, headache and/or obesity. CASE PRESENTATION: A 7-year-old boy was referred for short stature and proved to be partially growth-hormone deficient. Magnetic resonance imaging (MRI) revealed a lipoma in the paramedian hypothalamus. Growth hormone treatment resulted in swift and uncomplicated catch-up growth...
2020: International Journal of Pediatric Endocrinology
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