Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature.

CONCLUSION: We report a new mutation in the TBX19 gene in a patient with isolated ACTH deficiency. While overgrowth is a known feature of some types of adrenal insufficiencies, including MC2R gene defects and POMC deficiency, it may be a novel feature for TPIT deficiency, as in our patient. PMID: 30747411 [PubMed - as supplied by publisher]
Source: Hormones - Category: Endocrinology Tags: Hormones (Athens) Source Type: research