Pubertal and adult testicular functions in nonclassic lipoid congenital adrenal hyperplasia: A case series and review

Tomohiro Ishii, Naoaki Hori, Naoko Amano, Misaki Aya, Hirotaka Shibata, Noriyuki Katsumata, Tomonobu Hasegawa

研究成果: Article査読

10 被引用数 (Scopus)

抄録

Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in STAR and characterized by a defect in steroidogenesis and lipid droplet accumulation in steroidogenic cells. Patients with 46,XY and classic LCAH will typically present with female-type external genitalia. However, those with nonclassic LCAH will have masculinized external genitalia. The rarity of the nonclassic form has precluded the clarification of the long-term outcomes of testicular function in nonclassic LCAH. We report the cases of three adult males with nonclassic LCAH in whom primary adrenal insufficiency had been diagnosed at 5 days, 4 years, and 5 years of age. All exhibited complete male external genitalia and had completed pubertal development without androgen replacement. The endocrinological data showed preserved gonadal function in patients 1 and 2 and hypergonadotropic hypogonadism in patient 3. Semen analyses showed normozoospermia in patient 1 and mild oligozoospermia in patient 2. Electron microscopic analysis of a testicular biopsy specimen from patient 2 at 13 years of age revealed prominent lipid accumulation in the cytosol of Leydig cells. Patients 1 and 2 shared the same compound heterozygous mutations in STAR (p.Glu258∗ and p.Arg272Cys). Patient 3 possessed a heterozygous dominant-negative mutation in STAR (p.Gly22-Leu59del). A functional assay of a variant STAR-Arg272Cys determined the residual activity as 35% of the wild-type STAR. The results from the present case series and a review of four previously reported adult cases indicate that testosterone synthesis can be preserved in mostmales with nonclassic LCAH to complete pubertal development and induce germcellmaturation despite lipid accumulation in the Leydig cells.

本文言語English
ページ(範囲)1367-1374
ページ数8
ジャーナルJournal of the Endocrine Society
3
7
DOI
出版ステータスPublished - 2019 7月

ASJC Scopus subject areas

  • 内分泌学、糖尿病および代謝内科学

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