Growth hormone deficiency in a child with branchio‐oto‐renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance

2020 ◽  
Vol 185 (1) ◽  
pp. 261-266
Author(s):  
Karthik Muthusamy ◽  
Christian Hanna ◽  
Derek R. Johnson ◽  
Carl H. Cramer ◽  
Peter J. Tebben ◽  
...  
2018 ◽  
Vol 08 (01) ◽  
pp. e43-e45
Author(s):  
Juma Natsheh ◽  
Bassam Abu-Libdeh ◽  
Abdulsalam Abu-Libdeh

AbstractCongenital toxoplasmosis represents the second most commonly recognized congenital infection. Ocular and neurological abnormalities are considered the most frequent sequelae. Endocrinological manifestations are rare and have received little attention. We report a 3.5-month-old female infant who presented with failure to thrive and recurrent hypoglycemic attacks, diagnosed as growth hormone deficiency due to sequelae of congenital toxoplasmosis. Although endocrinological sequelae of congenital toxoplasmosis are uncommon, they represent potentially treatable conditions. Here, we stress on the importance of monitoring pituitary function and growth in children in particular, with congenital toxoplasmosis, keeping in mind other possible, potentially treatable, endocrinological manifestations.


2016 ◽  
Vol 174 (5) ◽  
pp. 669-679 ◽  
Author(s):  
Christopher J Child ◽  
Werner F Blum ◽  
Cheri Deal ◽  
Alan G Zimmermann ◽  
Charmian A Quigley ◽  
...  

ObjectiveTo determine characteristics of children initially diagnosed with isolated growth hormone deficiency (IGHD) of organic aetiology, who later developed multiple pituitary hormone deficiencies (MPHD).DesignData were analysed for 716 growth hormone-treated children with organic IGHD, who were growth hormone-naïve at baseline in the multinational, observational Genetics and Neuroendocrinology of Short Stature International Study.MethodsDevelopment of MPHD was ascertained from investigator-provided diagnoses, adverse events and concomitant medications. Analyses were performed for all patients and separately for those who developed MPHD within 4.5 years or had >3.5 years follow-up and continued to have IGHD (4-year cohort).ResultsMPHD developed in 71/716 (9.9%) children overall, and in 60/290 (20.7%) in the 4-year cohort. The most frequent additional deficiencies were thyroid-stimulating hormone (47 patients) and gonadotropins (23 patients). Compared with those who remained with IGHD, children who developed MPHD had more severe GHD at study entry, significantly lower baseline insulin-like growth factor1, peak stimulated growth hormone, and more frequent diagnosis of intracranial tumour or mutation of gene(s) controlling hypothalamic–pituitary development and/or function. Multivariate logistic regression analyses identified female gender, longer follow-up, higher baseline age and lower peak stimulated growth hormone as predictors of MPHD development.ConclusionsMPHD is more likely to develop in patients with severe organic IGHD, especially those with history of intracranial tumour or mutation of gene(s) controlling hypothalamic–pituitary development and/or function. Older baseline age, female gender and longer follow-up duration were also associated with higher incidence of MPHD. Long-term monitoring of pituitary function is recommended, irrespective of the aetiology of GHD.


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