Ausgabe 1/2020
Inhalt (22 Artikel)
A novel de novo partial xq duplication in a girl with short stature, nonverbal learning disability and diminished ovarian reserve - effect of growth hormone treatment and fertility preservation strategies: a case report and up-to-date review
Francesca Parissone, Mairi Pucci, Emanuela Meneghelli, Orsetta Zuffardi, Rossana Di Paola, Stefano Zaffagnini, Massimo Franchi, Elisabetta Santangelo, Gaetano Cantalupo, Paolo Cavarzere, Franco Antoniazzi, Giorgio Piacentini, Rossella Gaudino
Van Wyk-Grumbach syndrome in a female pediatric patient with trisomy 21: a case report
Jyotsna Gupta, Karen Lin-Su
Parent-reported outcomes in young children with disorders/differences of sex development
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
Hypothalamic lipoma and growth hormone deficiency
Anne Rochtus, Joseph Vinckx, Francis de Zegher
Low prevalence of organic pathology in a predominantly black population with premature adrenarche: need to stratify definitions and screening protocols
Christy Foster, Alicia Diaz-Thomas, Amit Lahoti
Overweight/obesity and associated cardiovascular risk factors in sub-Saharan African children and adolescents: a scoping review
Simeon-Pierre Choukem, Joel Noutakdie Tochie, Aurelie T. Sibetcheu, Jobert Richie Nansseu, Julian P. Hamilton-Shield
Thyrotoxic periodic paralysis presenting in an African-American teenage male: case report
Joshua Glass, Jennifer Osipoff
Longitudinal impact of gender-affirming endocrine intervention on the mental health and well-being of transgender youths: preliminary results
Christal Achille, Tenille Taggart, Nicholas R. Eaton, Jennifer Osipoff, Kimberly Tafuri, Andrew Lane, Thomas A. Wilson
Treatment of rickets and dyslipidemia in twins with progressive familial intrahepatic cholestasis type 2
Sunitha R. Sura, Emily L. Germain-Lee
The medical transition of young adults with type 1 diabetes (T1D): a retrospective chart review identifies areas in need of improvement
Abby M. Walch, Carmen E. Cobb, Shirng-Wern Tsaih, Susanne M. Cabrera
Dyslipidemia in adolescents and young adults with type 1 and type 2 diabetes: a retrospective analysis
Grace Kim, Daniel DeSalvo, Danielle Guffey, Charles G. Minard, Constance Cephus, Douglas Moodie, Sarah Lyons
Birth anthropometry and cord blood leptin in Korean appropriate-for-gestational-age infants born at ≥ 28 weeks’ gestation: a cross sectional study
Seok Jin Kang, Jin Gon Bae, Shin Kim, Jae Hyun Park
Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism
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
A synchronous papillary and follicular thyroid carcinoma presenting as a large toxic nodule in a female adolescent
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
Legg-Calve-Perthes disease in an 8-year old girl with Acrodysostosis type 1 on growth hormone therapy: case report
Whei Ying Lim, Emily L. Germain-Lee, Nancy S. Dunbar
Undervirilized male infant with in utero exposure to maternal use of high dose antifungal therapy
Jasmine Gujral, Gertrude Costin, Divya Khurana, Mabel Yau, Elizabeth Wallach, Christopher J. Romero, Meredith Wilkes, Swathi Sethuram, Robert Rapaport
Case report: contradictory genetics and imaging in focal congenital hyperinsulinism reinforces the need for pancreatic biopsy
Daphne Yau, Ria Marwaha, Klaus Mohnike, Rakesh Sajjan, Susann Empting, Ross J. Craigie, Mark J. Dunne, Maria Salomon-Estebanez, Indraneel Banerjee
Klinefelter syndrome and germ cell tumors: review of the literature
Kimberley Bonouvrie, Jutte van der Werff ten Bosch, Machiel van den Akker
Height outcomes in children with growth hormone deficiency and idiopathic short stature treated concomitantly with growth hormone and aromatase inhibitor therapy: data from the ANSWER program
Bradley S. Miller, Judith Ross, Vlady Ostrow
Outcomes in children treated with growth hormone for Prader-Willi syndrome: data from the ANSWER Program® and NordiNet® International Outcome Study
Moris Angulo, M. Jennifer Abuzzahab, Alberto Pietropoli, Vlady Ostrow, Nicky Kelepouris, Maithe Tauber
Fanconi Bickel syndrome: clinical phenotypes and genetics in a cohort of Sudanese children
Salwa A. Musa, Areej A. Ibrahim, Samar S. Hassan, Matthew B Johnson, Asmahan T. Basheer, Ali M. Arabi, Mohamed A. Abdullah
Pseudotumor cerebri in patient on leuprolide acetate for central precocious puberty
Anjumanara Anver Omar, Godfrey Nyaga, Lucy N Wainaina Mungai