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Case Report

A Case of Congenital Lipoid Adrenal Hyperplasia

Seo-Jeong Kim, Joo-Sik Choi, Kyu-Hyung Lee, Dong-Kyu Jin

Clin Exp Pediatr. 1996;39(4):567-571. Published online April 15, 1996

Congenital lipoid adrenal hyperplasia is the most severe form of CAH, leading to impaired production of all steroid hormones including glucocorticoids, mineralocorticoid, and sex steroids. The affected individuals are all phenotypically female with a severe salt-losing syndrome that is fatal if steroid replacement is not begun immediately after birth. The lesion of this disorder has been suggested to be in...

A Case of 45, XO/46, XY Mosaicism With Left Inguinal Herniation of The Ovary.

Young Hoon Song, Ha Baik Lee, Chong Moo Park, Yong Giun Baik, Poong Man Jung

Clin Exp Pediatr. 1983;26(6):606-610. Published online June 30, 1983

In this report, we describsd a 50-days-old female infant who was a case of 45, XO/XY mosaicism with left inguinal herniation of the ovary. The patient manifested the clinical findings of clitorial enlargement and palpable mass in the left inguinal area. The patient was shown by chromosomal analysis of peripheral blood leukocytes to be an 45, XO/46, XY mosaic, shown by operation to be...

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