Growth Hormone Deficiency in Congenital Toxoplasmosis

Abstract

Congenital 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.

Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder

“…Nonmetabolic genetic conditions on the differential diagnosis for FTT include Russell-Silver syndrome (the most common genetic cause of FTT after trisomy 21 and notable for relative macrocephaly and triangular facial appearance), Prader-Willi syndrome (poor feeding until 18–36 months with subsequent paradoxical hyperphagia), chromosome abnormalities, and monogenic ID disorders with FTT secondary to behavioral features. 13 Teratogen exposures such as congenital infections 14 , 15 and in utero ethanol exposure, 16 while not genetic in nature, should also be considered.…”

“…Previous genetic testing included a normal karyotype and chromosomal microarray. On admission, a comprehensive metabolic panel was normal except for a low creatinine of <0.06 mg/dL (0.18-0.35) and elevated blood urea nitrogen of 26 mg/dL (5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18). A nasal-gastric tube was placed to increase caloric intake and Medical Genetics was consulted due to concern for an underlying genetic condition.…”