Nonclassic 21-hydroxylase deficiency in Croatia

Miroslav Dumic; Jasenka Ille; Renata Zunec; Vesna Plavsic; Igor Francetic; Veselin Skrabic; Nevena Janjanin; Anita Spehar; Ji Qing Wei; Robert C. Wilson; Maria I. New

doi:10.1515/JPEM.2004.17.2.157

Nonclassic 21-hydroxylase deficiency in Croatia

Miroslav Dumic, Jasenka Ille, Renata Zunec, Vesna Plavsic, Igor Francetic, Veselin Skrabic, Nevena Janjanin, Anita Spehar, Ji Qing Wei, Robert C. Wilson, Maria I. New

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

7 Scopus citations

Abstract

This is the first report of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency in Croatia in which the patients have been evaluated clinically, hormonally, and by molecular genetic analysis. Genetic analysis was performed on 18 Croatian patients with nonclassic CAH due to 21-OH deficiency using allele-specific PCR. ACTH stimulation testing and HLA typing were used to evaluate patients hormonally. Molecular genetic analysis revealed a variety of mutations in individuals with different clinical symptoms, including precocious pubarche, hirsutism, dysmenorrhea, subfertility and clitoromegaly. Serum stimulated 17-hydroxyprogesterone (17-OHP) levels indicated that all patients fell within the acceptable range for nonclassic congenital adrenal hyperplasia. Clinical and genetic analysis confirmed nonclassic 21-OH deficiency in our Croatian sample of ten males and eight females. This study shows that genotype does not necessarily predict fertility status in our group of affected patients.

Original language	English
Pages (from-to)	157-164
Number of pages	8
Journal	Journal of Pediatric Endocrinology and Metabolism
Volume	17
Issue number	2
DOIs	https://doi.org/10.1515/JPEM.2004.17.2.157
State	Published - 2004
Externally published	Yes

Keywords

21-hydroxylase deficiency
Ambiguous genitalia
Croatia
Nonclassic congenital adrenal hyperplasia
Prenatal diagnosis
Prenatal treatment

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title = "Nonclassic 21-hydroxylase deficiency in Croatia",

abstract = "This is the first report of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency in Croatia in which the patients have been evaluated clinically, hormonally, and by molecular genetic analysis. Genetic analysis was performed on 18 Croatian patients with nonclassic CAH due to 21-OH deficiency using allele-specific PCR. ACTH stimulation testing and HLA typing were used to evaluate patients hormonally. Molecular genetic analysis revealed a variety of mutations in individuals with different clinical symptoms, including precocious pubarche, hirsutism, dysmenorrhea, subfertility and clitoromegaly. Serum stimulated 17-hydroxyprogesterone (17-OHP) levels indicated that all patients fell within the acceptable range for nonclassic congenital adrenal hyperplasia. Clinical and genetic analysis confirmed nonclassic 21-OH deficiency in our Croatian sample of ten males and eight females. This study shows that genotype does not necessarily predict fertility status in our group of affected patients.",

keywords = "21-hydroxylase deficiency, Ambiguous genitalia, Croatia, Nonclassic congenital adrenal hyperplasia, Prenatal diagnosis, Prenatal treatment",

author = "Miroslav Dumic and Jasenka Ille and Renata Zunec and Vesna Plavsic and Igor Francetic and Veselin Skrabic and Nevena Janjanin and Anita Spehar and Wei, {Ji Qing} and Wilson, {Robert C.} and New, {Maria I.}",

year = "2004",

doi = "10.1515/JPEM.2004.17.2.157",

language = "English",

volume = "17",

pages = "157--164",

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T1 - Nonclassic 21-hydroxylase deficiency in Croatia

AU - Dumic, Miroslav

AU - Ille, Jasenka

AU - Zunec, Renata

AU - Plavsic, Vesna

AU - Francetic, Igor

AU - Skrabic, Veselin

AU - Janjanin, Nevena

AU - Spehar, Anita

AU - Wei, Ji Qing

AU - Wilson, Robert C.

AU - New, Maria I.

PY - 2004

Y1 - 2004

N2 - This is the first report of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency in Croatia in which the patients have been evaluated clinically, hormonally, and by molecular genetic analysis. Genetic analysis was performed on 18 Croatian patients with nonclassic CAH due to 21-OH deficiency using allele-specific PCR. ACTH stimulation testing and HLA typing were used to evaluate patients hormonally. Molecular genetic analysis revealed a variety of mutations in individuals with different clinical symptoms, including precocious pubarche, hirsutism, dysmenorrhea, subfertility and clitoromegaly. Serum stimulated 17-hydroxyprogesterone (17-OHP) levels indicated that all patients fell within the acceptable range for nonclassic congenital adrenal hyperplasia. Clinical and genetic analysis confirmed nonclassic 21-OH deficiency in our Croatian sample of ten males and eight females. This study shows that genotype does not necessarily predict fertility status in our group of affected patients.

AB - This is the first report of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency in Croatia in which the patients have been evaluated clinically, hormonally, and by molecular genetic analysis. Genetic analysis was performed on 18 Croatian patients with nonclassic CAH due to 21-OH deficiency using allele-specific PCR. ACTH stimulation testing and HLA typing were used to evaluate patients hormonally. Molecular genetic analysis revealed a variety of mutations in individuals with different clinical symptoms, including precocious pubarche, hirsutism, dysmenorrhea, subfertility and clitoromegaly. Serum stimulated 17-hydroxyprogesterone (17-OHP) levels indicated that all patients fell within the acceptable range for nonclassic congenital adrenal hyperplasia. Clinical and genetic analysis confirmed nonclassic 21-OH deficiency in our Croatian sample of ten males and eight females. This study shows that genotype does not necessarily predict fertility status in our group of affected patients.

KW - 21-hydroxylase deficiency

KW - Ambiguous genitalia

KW - Croatia

KW - Nonclassic congenital adrenal hyperplasia

KW - Prenatal diagnosis

KW - Prenatal treatment

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EP - 164

JO - Journal of Pediatric Endocrinology and Metabolism

JF - Journal of Pediatric Endocrinology and Metabolism

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ER -

Nonclassic 21-hydroxylase deficiency in Croatia

Abstract

Keywords

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