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Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia

Nasir H, Ali SI, Haque N, Grebe SK, Kirmani S

We present a family with 2 members who received long-term steroid treatment for presumed classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, until molecular testing revealed nonclassic CAH, not...
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Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care

Choi JH, Yoo HW

Steroid 21-hydroxylase deficiency is the most prevalent form of congenital adrenal hyperplasia (CAH), accounting for approximately 95% of cases. With the advent of newborn screening and hormone replacement therapy, most...
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Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Choi JH, Kim GH, Yoo HW

The term congenital adrenal hyperplasia (CAH) covers a group of autosomal recessive disorders caused by defects in one of the steroidogenic enzymes involved in the synthesis of cortisol or aldosterone...
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Successful pregnancy and delivery of a patient with congenital adrenal hyperplasia

Mun DH, Yun HN, Kim JW, Kim YH, Song TB

Congenital adrenal hyperplasia (CAH) during pregnancy is a rare condition. Only a few cases have been reported in the literature. CAH patients has lower pregnancy rate compared to normal women....
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Clinical and molecular review of atypical congenital adrenal hyperplasia

Sahakitrungruang T

Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the mutations in the genes encoding for...
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Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center

Yoo Y, Chang MS, Lee J, Cho SY, Park SW, Jin DK, Park HD

PURPOSE: The purpose of the study was to evaluate endocrine patterns of patients with congenital adrenal hyperplasia and each gene mutation and to analyze the correlation between each phenotype and...
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Clinical Features of Congenital Adrenal Insufficiency Including Growth Patterns and Significance of ACTH Stimulation Test

Koh JW, Kim GH, Yoo HW, Yu J

Congenital adrenal insufficiency is caused by specific genetic mutations. Early suspicion and definite diagnosis are crucial because the disease can precipitate a life-threatening hypovolemic shock without prompt treatment. This study...
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Manifestation of Giant Bilateral Symptomatic Adrenal Myelolipomas in an Adult Patient with Congenital Adrenal Hyperplasia

Kim YM, Choi JH, Lee BH, Kim GH, Hong BS, Ryu YJ, Yoo HW

Adrenal myelolipoma is an uncommon non-functioning tumor that is composed of variable amounts of mature adipose tissue and scattered islands of hematopoietic elements, including erythroid, myeloid, lymphoid series, and megakaryocytes....
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A Case of Congenital Adrenal Hyperplasia Mimicking Cushing's Syndrome

Kim HJ, Kang M, Kim JH, Kim SW, Chung JH, Min YK, Lee MK, Kim KW, Lee MS

Congenital adrenal hyperplasia (CAH) is characterized by decreased adrenal hormone production due to enzymatic defects and subsequent rise of adrenocorticotrophic hormone that stimulates the adrenal cortex to become hyperplastic, and...
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A sclerosing stromal tumor of the ovary with masculinization in a premenarchal girl

Park SM, Kim YN, Woo YJ, Choi HS, Lee JS, Heo SH, Kim CJ

A sclerosing stromal tumor of the ovary is an extremely rare benign tumor; it usually is found during the second and third decades of life. Patients present with pelvic pain...
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Testicular adrenal rest tumors in a patient with untreated congenital adrenal hyperplasia

Jin HY, Choi JH, Kim GH, Lee CS, Yoo HW

Testicular adrenal rest tumors (TARTs) are considered to be formed from aberrant adrenal tissue that has become hyperplastic because of elevated adrenocorticotropic hormone (ACTH) in male patients with congenital adrenal...
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Relationships of Basal Level of Serum 17-Hydroxyprogesterone with that of Serum Androstenedione and Their Stimulated Responses to a Low Dose of ACTH in Young Adult Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Kang MJ, Kim SM, Lee YA, Shin CH, Yang SW

A single measurement of serum 17alpha-hydroxyprogesterone (17OHP) level can be unreliable because of its marked diurnal variation. We investigated the relationship of serum level of 17OHP with that of androstenedione...
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A case of congenital adrenal hyperplasia presenting as adrenal incidentaloma

Choi MJ, Kim BH, Sohn KM, Yang HN, Ryu OH, Choi MG, Yoo HJ

  • KMID: 2258113
  • Korean J Med.
  • 2009 Aug;77(Suppl 1):S103-S108.
Congenital adrenal hyperplasia, an autosomal recessive disorder resulting from an enzymatic defect during cortisol biosynthesis (i.e., 21-hydroxylase deficiency), is characterized by impaired production of cortisol with or without impaired production...
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The Clinical Characteristics of Congenital Adrenal Hyperplasia

Park SJ, Seo JY, Kim CJ, Woo YJ

This study was performed to investigate the clinical features of congenital adrenal hyperplasia (CAH) with steroid 21-hydroxylase deficiency and to compare the salt-wasting (SW) type with the simple virilizing (SV)...
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A case of testicular adrenal rest tumor in a male child with congenital adrenal hyperplasia

Kim JH, Yun KA, Shin CH, Yang SW

Testicular adrenal rest tumors are a well-known complication in male patients with congenital adrenal hyperplasia. Corticosteroid suppressive therapy usually results in the regression of these tumors. We describe a patient...
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A Case of Adrenocortical Tumor in a 16-Month-Old Boy Presenting with Virilization

Kwak MJ, Hyun HS, Kim SJ, Paik KH, Jin DK

  • KMID: 2321965
  • J Korean Soc Pediatr Endocrinol.
  • 2008 Jun;13(1):110-116.
A 16-month-old boy had signs of virilization such as penile enlargement and pubic hair since 13 months of age. Hormone evaluation indicated increased levels of 17-OH-progesterone, dehydroepiandrosterone- sulfate (DHEA-S) and...
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Two Cases of Simple Virilizing Congenital Adrenal Hyperplasia with Compound Heterozygous Mutations of CYP21 Gene

Kim KS, Choi YS, Bai YS, Rha SY, Jo YS, Shong M

Steroid 21-hydroxylase deficiency is the most frequent cause of congenital adrenal hyperplasia (CAH), which is an inherited inability to synthesize cortisol. Actually, CAH is caused by mutations in the CYP21...
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A case of adrenocortical adenoma following long-term treatment in a patient with congenital adrenal hyperplasia

Lho SR, Park SH, Jung MH, Lee BC

As a result of the widespread use and enhanced quality of high-resolution radiological techniques, a recent report has revealed a relatively high prevalence of small adrenal tumors in patients with...
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Long-term Follow up of Congenital Adrenal Hyperplasia Patients with Hyponatremia

Song JH, Lee KH, Kim SD, Cho BS

Congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency is an autosomal recessive disease, which leads to cortisol and aldosterone deficiency and hyperandrogenism. Typical medical treatment includes oral glucocorticoid and mineralocorticoid...
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A Case of Congenital Adrenal Hyperplasia Combined with a Testicular Adrenal Rest Tumor and Adrenal Incidentaloma

Cho GR, Chueh HW, Kim JP, Jung JA, Yoo JH, Yoon SK, Hwang KG

The fundamental defect among patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylse deficiency is the inability to synthesize cortisol and aldosterone adequately. Ineffective cortisol synthesis signals the hypothalamus and...
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