Ann Pediatr Endocrinol Metab.  2018 Sep;23(3):162-165. 10.6065/apem.2018.23.3.162.

Testicular microlithiasis in a boy with X-linked adrenal hypoplasia congenita

• Serbis A
• Tsinopoulou VR
• Mouzaki K
• Kotanidou
• Giza S
• Galli-Tsinopoulou A

• KMID: 2422482
• DOI: http://doi.org/10.6065/apem.2018.23.3.162

Abstract

X-linked adrenal hypoplasia congenita (AHC) is a rare disorder that usually presents clinically as adrenal insufficiency in early infancy. It is caused by mutations in the NR0B1 gene which is located on the short arm of chromosome X (Xp21). The NR0B1 gene plays an important role in normal development and function of both the adrenal and gonadal axes and some patients with the disease can present in adolescence with hypogonadotropic hypogonadism. Testicular microlithiasis is an ultrasonographic finding of unknown etiology that has been associated with several benign conditions such as cryptorchidism, congenital adrenal hyperplasia, varicoceles, and testicular malignancy. We report the case of an 11-year-old boy who was diagnosed at the age of 8 months with X-linked AHC due to adrenal failure and presented testicular microlithiasis during follow-up. To the best of our knowledge, this is the first case of an X-linked AHC patient diagnosed with testicular microlithiasis in follow-up.

Keyword

Adrenal hypoplasia congenita; NR0B1 gene; Testicular microlithiasis

MeSH Terms

Adolescent
Adrenal Hyperplasia, Congenital
Adrenal Insufficiency
Arm
Child
Cryptorchidism
Follow-Up Studies
Gonads
Humans
Hypogonadism
Male*
Varicocele

Figure

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  Fig. 1. Ultrasonographic picture of right testis (RT) which shows classic grade 1 segmental testicular microlithiasis.

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  Fig. 2. Ultrasonographic picture of left testis (LT) which shows classic grade 1 segmental testicular microlithiasis.

Reference

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