A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3

American Journal of Medical Genetics. Part a
Katherine G LangleySamantha A Schrier Vergano

Abstract

Allan-Herndon-Dudley syndrome (AHDS, MIM 300523) is an X-linked neurodegenerative disorder characterized by intellectual disability, severe hypotonia, diminished muscle mass, and progressive spastic paraplegia. All affected males have pathognomonic thyroid profiles with an elevated T3 , low-normal free T4 , and normal TSH. Mutations in the monocarboxylate transporter 8 (MCT8) gene, SLC16A2, have been found to be causative. Here, we describe a proband whose extensive evaluation and ultimate diagnosis of AHDS unmasked three previously undiagnosed generations of affected individuals in one family. This case illustrates the need for clinicians to consider obtaining full thyroid studies on individuals with the non-specific findings of severe hypotonia, failure to thrive, and gross motor delay.

References

Apr 1, 1992·American Journal of Medical Genetics·M G BialerC E Schwartz
Sep 8, 2006·Nature Clinical Practice. Endocrinology & Metabolism·Edith C H FriesemaTheo J Visser
Mar 6, 2008·The Journal of Clinical Endocrinology and Metabolism·Paul E SijensRoelineke J Lunsing
Mar 13, 2008·The Journal of Clinical Endocrinology and Metabolism·J L WémeauM Ladsous
Apr 10, 2008·European Journal of Human Genetics : EJHG·Suzanna Gerarda Maria FrintsAndreas Walter Kuss
Nov 26, 2010·European Journal of Endocrinology·Helton Estrela RamosMichel Polak

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Citations

May 29, 2016·Clinical Genetics·A CharzewskaD Hoffman-Zacharska
Aug 15, 2019·Developmental Medicine and Child Neurology·Ganaelle RemerandUNKNOWN RMLX/AHDS Study Group
Nov 23, 2019·Endocrine Reviews·Stefan GroenewegW Edward Visser

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