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Open Access 01-06-2019 | Congenital Adrenal Hyperplasia | Letter to Editor

A patient with DAX1 mutation presenting with elevated testosterone in early infancy

Authors: Juan Ge, Tang Li

Published in: World Journal of Pediatrics | Issue 3/2019

Excerpt

Dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome 1 (DAX1) deficiency is a rare disorder presents X-Linked adrenal hypoplasia congenital, impaired sexual development and infertility. Mutational gene of DAX1 was identified as NROB1 [1] which expresses in adrenal gland and hypothalamic–pituitary–gonad axis, restrains progenitor stem cells from differentiating into steroidogenic cells prematurely. Therefore, DAX1 deficiency usually manifests primary adrenal insufficiency and hypogonadotropic hypogonadism. However, we observed a patient whose testosterone elevated in early infancy. …

Muscatelli F, Strom TM, Walker AP, Zanaria E, Récan D, Meindl A, et al. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature. 1994;372:672–6.CrossRefPubMed

Galeotti C, Lahlou Z, Goullon D, Sarda-Thibault H, Cahen-Varsaux J, Bignon-Topalovic J, et al. Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations. PLoS One. 2012;7:e39828.CrossRefPubMedPubMedCentral

Landau Z, Hanukoglu A, Sack J, Goldstein N, Weintrob N, Eliakim A, et al. Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations. Clin Endocrinol (Oxf). 2010;724:448–54.CrossRef

Kaiserman KB, Nakamoto JM, Geffner ME, McCabe ER. Minipuberty of infancy and adolescent pubertal function in adrenal hypoplasia congenita. J Pediatr. 1998;133:300–2.CrossRefPubMed

Yeste D, González-Niño C, Pérez de Nanclares G, Pérez-Nanclares G, Audi L, Castaño L, et al. ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation. Eur J Pediatr. 2009;168:65–9.CrossRefPubMed

Brown P, Scobie GA, Townsend J, Bayne RA, Seckl JR, Saunders PT, et al. Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation. J Clin Endocrinol Metab. 2003;88:1341–9.CrossRefPubMed

Title: A patient with DAX1 mutation presenting with elevated testosterone in early infancy
Authors: Juan Ge
Tang Li
Publication date: 01-06-2019
Publisher: Springer Singapore
Keywords: Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia
Testosterone
Hypogonadism
Published in: World Journal of Pediatrics / Issue 3/2019
Print ISSN: 1708-8569
Electronic ISSN: 1867-0687
DOI: https://doi.org/10.1007/s12519-019-00236-4

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A patient with DAX1 mutation presenting with elevated testosterone in early infancy

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