Histopathological Features of the Testes of a Patient With Congenital Lipoid Adrenal Hyperplasia

Takuya Sakata; Kentaro Mizuno; Daisuke Matsumoto; Hidenori Nishio; Atsushi Suzuki; Kohei Aoyama; Atsushi Ishida; Takahiro Yasui; Haruo Mizuno; Yutaro Hayashi

doi:10.1002/iju5.70048

Histopathological Features of the Testes of a Patient With Congenital Lipoid Adrenal Hyperplasia

Takuya Sakata
, Kentaro Mizuno
, Daisuke Matsumoto
, Hidenori Nishio
, Atsushi Suzuki
, Kohei Aoyama
, Atsushi Ishida
, Takahiro Yasui
, Haruo Mizuno
, Yutaro Hayashi

Pediatrics

Research output: Contribution to journal › Article › peer-review

Abstract

Introduction: Congenital lipoid adrenal hyperplasia (CLAH) is a type of congenital adrenal hyperplasia characterized by reduced steroid production. Patients with this endocrine disorder as well as chromosome 46,XY have testes and female external genitalia. Because these individuals are usually raised as female, the testes are removed. Case Presentation: A 22-day-old female infant with fever and poor feeding was diagnosed with hypoadrenocorticism. Chromosome test results identified a 46,XY karyotype. Therefore, CLAH was diagnosed. At 1 year and 6 months of age, the patient underwent laparoscopic gonadectomy. Pathological testing of the testes revealed fat deposits in Leydig cells and decreased germ cells. Conclusion: CLAH with chromosome 46,XY may be complicated by spermatogenesis deficiency.

Original language	English
Pages (from-to)	386-389
Number of pages	4
Journal	IJU Case Reports
Volume	8
Issue number	4
DOIs	https://doi.org/10.1002/iju5.70048
Publication status	Published - 07-2025

All Science Journal Classification (ASJC) codes

Urology

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10.1002/iju5.70048

Cite this

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title = "Histopathological Features of the Testes of a Patient With Congenital Lipoid Adrenal Hyperplasia",

abstract = "Introduction: Congenital lipoid adrenal hyperplasia (CLAH) is a type of congenital adrenal hyperplasia characterized by reduced steroid production. Patients with this endocrine disorder as well as chromosome 46,XY have testes and female external genitalia. Because these individuals are usually raised as female, the testes are removed. Case Presentation: A 22-day-old female infant with fever and poor feeding was diagnosed with hypoadrenocorticism. Chromosome test results identified a 46,XY karyotype. Therefore, CLAH was diagnosed. At 1 year and 6 months of age, the patient underwent laparoscopic gonadectomy. Pathological testing of the testes revealed fat deposits in Leydig cells and decreased germ cells. Conclusion: CLAH with chromosome 46,XY may be complicated by spermatogenesis deficiency.",

keywords = "46,XY, Leydig cell, congenital lipoid adrenal hyperplasia, germ cell",

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T1 - Histopathological Features of the Testes of a Patient With Congenital Lipoid Adrenal Hyperplasia

AU - Sakata, Takuya

AU - Mizuno, Kentaro

AU - Matsumoto, Daisuke

AU - Nishio, Hidenori

AU - Suzuki, Atsushi

AU - Aoyama, Kohei

AU - Ishida, Atsushi

AU - Yasui, Takahiro

AU - Mizuno, Haruo

AU - Hayashi, Yutaro

PY - 2025/7

Y1 - 2025/7

N2 - Introduction: Congenital lipoid adrenal hyperplasia (CLAH) is a type of congenital adrenal hyperplasia characterized by reduced steroid production. Patients with this endocrine disorder as well as chromosome 46,XY have testes and female external genitalia. Because these individuals are usually raised as female, the testes are removed. Case Presentation: A 22-day-old female infant with fever and poor feeding was diagnosed with hypoadrenocorticism. Chromosome test results identified a 46,XY karyotype. Therefore, CLAH was diagnosed. At 1 year and 6 months of age, the patient underwent laparoscopic gonadectomy. Pathological testing of the testes revealed fat deposits in Leydig cells and decreased germ cells. Conclusion: CLAH with chromosome 46,XY may be complicated by spermatogenesis deficiency.

AB - Introduction: Congenital lipoid adrenal hyperplasia (CLAH) is a type of congenital adrenal hyperplasia characterized by reduced steroid production. Patients with this endocrine disorder as well as chromosome 46,XY have testes and female external genitalia. Because these individuals are usually raised as female, the testes are removed. Case Presentation: A 22-day-old female infant with fever and poor feeding was diagnosed with hypoadrenocorticism. Chromosome test results identified a 46,XY karyotype. Therefore, CLAH was diagnosed. At 1 year and 6 months of age, the patient underwent laparoscopic gonadectomy. Pathological testing of the testes revealed fat deposits in Leydig cells and decreased germ cells. Conclusion: CLAH with chromosome 46,XY may be complicated by spermatogenesis deficiency.

KW - 46,XY

KW - Leydig cell

KW - congenital lipoid adrenal hyperplasia

KW - germ cell

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UR - https://www.scopus.com/pages/publications/105006493185#tab=citedBy

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SN - 2577-171X

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JO - IJU Case Reports

JF - IJU Case Reports

IS - 4

ER -

Histopathological Features of the Testes of a Patient With Congenital Lipoid Adrenal Hyperplasia

Abstract

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