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Effect of oxandrolone therapy on adult height in Turner syndrome patients treated with growth hormone: a meta-analysis
In conclusion, the addition of oxandrolone to growth hormone therapy for treatment of short stature in Turner syndrome improves adult height. Further studies are warranted to investigate if there is a subset of Turner syndrome patients that would benefit most from growth hormone plus oxandrolone therapy, and to determine the optimal timing and duration of such therapy. (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - August 26, 2015 Category: Endocrinology Authors: Nicole SheanonPhilippe Backeljauw Source Type: research

Residual manifestations of hypercortisolemia following surgical treatment in a patient with Cushing syndrome
Conclusions and outcomeThis case highlights the significant diagnostic and therapeutic challenges in treating children with Cushing syndrome. Resolution of the source of hypercortisolemia does not imply regression of hypertension or recovery of the immune system. Although the child underwent bilateral adrenalectomy, persistent consequences of prolonged severe hypercortisolism contributed to her death two months later. (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - August 26, 2015 Category: Endocrinology Authors: Sara BartzLefkothea KaravitiMary BrandtMonica LopezPrakash MasandSridevi DevarajJohn HicksLauren AndersonMaya LodishMeg KeilConstantine Stratakis Source Type: research

Treatment-resistant pediatric giant prolactinoma and multiple endocrine neoplasia type 1
Conclusions: This case emphasizes the need to consider pituitary adenomas in the differential diagnosis of all pediatric suprasellar tumors by careful endocrine assessment and measurement of at least a serum prolactin concentration. It also highlights the lack of evidence for the optimal management of pediatric drug-resistant prolactinomas. Finally, the case we describe demonstrates the importance of a detailed family history and the role of genetic testing for MEN1 and AIP mutations in all cases of pediatric pituitary adenoma. (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - July 15, 2015 Category: Endocrinology Authors: Hoong-Wei GanChloe BulwerOwase JeelaniMichael LevineMárta KorbonitsHelen Spoudeas Source Type: research

A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels
Conclusion: We describe a novel compound heterozygous mutation leading to diffuse, diazoxide-unresponsive congenital hyperinsulinism. This case illustrates challenges associated with diagnosing and managing congenital hyperinsulinism and the importance of genetic testing. (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - July 15, 2015 Category: Endocrinology Authors: Cassandra BradyAndrew PalladinoIris Gutmark-Little Source Type: research

Association of immunohistochemical markers with premalignancy in Gonadal Dysgenesis
Background: Gonadal dysgenesis (GD) is associated with increased risk of gonadal malignancy. Determining a patient’s risk and appropriate timing of gonadectomy is challenging, but immunohistochemical markers (IHM) may help establish the diagnosis of malignant germ cell tumors (GCT). Our objective was to identify the prevalence of specific IHM expression in patients with GD and determine if the patterns of expression can help identify malignancy versus pre-malignancy state. We evaluated the published literature using the Grading of Recommendation, Assessment, Development, and Evaluation (GRADE) system to provide recommend...
Source: International Journal of Pediatric Endocrinology - June 15, 2015 Category: Endocrinology Authors: Bonnie McCann-CrosbySheila GunnE. SmithLefkothea KaravitiM. Hicks Source Type: research

Height augmentation in 11β-hydroxylase deficiency congenital adrenal hyperplasia
Conclusions: This case of a 46,XX patient raised as male with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency highlights a number of unique and difficult treatment challenges; specifically, the role of new therapeutic options for optimization of growth in the context of prior suboptimal disease management. (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - May 15, 2015 Category: Endocrinology Authors: Munier NourDanièle Pacaud Source Type: research

Primary ovarian insufficiency in adolescents: a case series
Conclusions: In this first case series of POI from the United States, we observed a clustering at our institution in recent years. If an increased incidence of idiopathic POI is identified at other institutions, further investigation into potential environmental and genetic precipitants is warranted. (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - May 15, 2015 Category: Endocrinology Authors: Julia PedersonRajiv KumarPaula Adams HillardLaura Bachrach Source Type: research

The pattern of disorders of sex development in Vietnamese children
(Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - April 28, 2015 Category: Endocrinology Authors: Pham Thu Nga, Vu Chi Dung, Bui Phuong Thao, Nguyen Ngoc Khanh, Can Thi Bich Ngoc, Hoan Nguyen Thi and Dat Nguyen Phu Source Type: research

African immigrant parents' understanding of their teenagers' newly diagnosed diabetes status in Perth, Western Australia
(Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - April 28, 2015 Category: Endocrinology Authors: Annette S Hart, Sara Baynes and Sadie Geraghty Source Type: research

Abundant CD4+FOXP3+ regulatory T cells fail to suppress the proliferation of T cells in patients with Turner syndrome
(Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - April 28, 2015 Category: Endocrinology Authors: Young Ah Lee, Hang-Rae Kim, Jeong Seon Lee, Haewoon Jung, Hwa Young Kim, Kyung Min Lee, Ji Hyun Sim, Doo Hyun Chung, Choong Ho Shin and Sei Won Yang Source Type: research

A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia
This report describes a new case of TRMA syndrome in a female patient of Portuguese descent, born to unrelated parents. The patient was found to have a novel homozygous change R397X in exon 4 of the SLC19A2 gene, leading to a premature stop codon. The patient’s diabetes and anaemia showed a good response to daily thiamine doses, reducing the daily insulin dose requirement. The report further indicates that TRMA is not only limited to consanguineous or ethnically isolated families, and should be considered as a differential diagnosis for patients presenting with suggestive clinical symptoms. (Source: International Journal...
Source: International Journal of Pediatric Endocrinology - April 15, 2015 Category: Endocrinology Authors: Sophia TahirLieve LeijssenMaha SherifCarla PereiraAnabela MoraisKhalid Hussain Source Type: research

Endocrine and pubertal disturbances in optic nerve hypoplasia, from infancy to adolescence
Conclusions: A significant proportion of children with ONH have endocrine dysfunction. The high frequency of pubertal disturbances in this study emphasizes the need for long-term monitoring of developing endocrinopathy. While pituitary gland abnormalities are a good predictor of endocrine dysfunction, a normal pituitary gland does not rule out endocrinopathy. (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - April 15, 2015 Category: Endocrinology Authors: Oliver OatmanDonald McClellanMicah OlsonPamela Garcia-Filion Source Type: research

The pitfalls associated with urinary steroid metabolite ratios in children undergoing investigations for suspected disorders of steroid synthesis
Conclusions: Urinary steroid metabolite ratios in suspected disorders of hormone synthesis often exceed the reference range for normal children. The predictive value of steroid metabolite ratios in identifying a genetic abnormality may be condition specific and needs further study to improve its clinical utility. (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - April 15, 2015 Category: Endocrinology Authors: Angela Lucas-HeraldMartina RodieLaura LucaccioniDavid ShapiroJane McNeillyM ShaikhS Ahmed Source Type: research

Psychological assessment of mothers and their daughters at the time of diagnosis of precocious puberty
Background: Concerns about psychological distress are often used to justify treatment of girls with precocious puberty, but there is little evidence to support these concerns. The extent to which psychological problems are associated with central precocious puberty (CPP) compared with other forms of early puberty in girls has likewise not been established. Methods: Girls presenting with untreated CPP, premature adrenarche (PA) or early normal puberty (ENP) were recruited from our pediatric endocrine clinic along with their mothers. Child psychological adjustment was assessed by child self-report and parent report. Parent s...
Source: International Journal of Pediatric Endocrinology - March 16, 2015 Category: Endocrinology Authors: Melissa SchoelwerKelly DonahueKristina BrykPaula DidrickSheri BerenbaumErica Eugster Source Type: research

Congenital nystagmus and central hypothyroidism
We observed a male newborn with bilateral nystagmus and central hypothyroidism without hypoprolactinemia due to a deletion of chromosome band Xq26.1q26.2, containing FRMD7 and IGSF1. These two loss-of function mutations are known to cause, respectively, congenital nystagmus and the ensemble of central hypothyroidism, hypoprolactinemia and testicular enlargement. These latter two features may not yet be present in early life. (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - March 16, 2015 Category: Endocrinology Authors: Nele ReynaertElke BraatFrancis de Zegher Source Type: research