IJU case reports · 2020
Congenital lipoid adrenal hyperplasia: Immunohistochemical study of testosterone synthesis in Leydig cells.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Matsuoka Kanako, Sato Yuichi, Hoshi Seiji, Koguchi Tomoyuki, Ogawa Soichiro, Ishii Tomohiro, Haga Nobuhiro, Hasegawa Tomonobu, Kojima Yoshiyuki
Аннотация
INTRODUCTION: Congenital lipoid adrenal hyperplasia is a rare disease that causes disorders of sex development. The 46,XY patient presents with female external genitalia and inguinal testes. We describe the case of a patient with congenital lipoid adrenal hyperplasia and investigated the testes of this patient in detail.
CASE PRESENTATION: A 15-day-old 46,XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and without lipid droplets in the testes of this patient. We also demonstrated immunohistochemically that some testosterone-synthesizing enzymes were maintained in this patient.
CONCLUSION: The results indicated transcription of testosterone-synthesizing enzymes remained despite lipid accumulation in this patient. The pattern of expression of testosterone-synthesizing enzymes suggested fetal Leydig cells may have remained after birth in the testes of this patient.
CASE PRESENTATION: A 15-day-old 46,XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and without lipid droplets in the testes of this patient. We also demonstrated immunohistochemically that some testosterone-synthesizing enzymes were maintained in this patient.
CONCLUSION: The results indicated transcription of testosterone-synthesizing enzymes remained despite lipid accumulation in this patient. The pattern of expression of testosterone-synthesizing enzymes suggested fetal Leydig cells may have remained after birth in the testes of this patient.