Usefulness of an ACTH Test in the Diagnosis of Nonclassical 21-Hydroxylase Deficiency among Children Presenting with Premature Pubarche

Ibáñez, Lourdes; Bonnin, M R; Zampolli, Maria; Prat, Neus; Alía, Pedro; Navarro, Miguel

doi:10.1159/000184592

Cited by 37 publications

(7 citation statements)

References 15 publications

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“…The available data regarding the final stature of boys with PP are scarce [22, 23, 24, 25]. In the present study with a cross-sectional design, the advance in bone maturation was more pronounced before than during puberty, thus paralleling the – reassuring – pattern observed in girls [21].…”

Section: Discussionsupporting

confidence: 50%

Pronounced Adrenarche and Precocious Pubarche in Boys

et al. 1999

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In girls, pronounced adrenarche with precocious pubarche (PP) has been related to reduced fetal growth and to a cluster of endocrine-metabolic abnormalities. We examined whether these associations are also evident in boys with PP. The study population consisted of matched groups of boys (n = 58; age range 5–15 years) without or with a history of PP. After stratification for pubertal development, non-PP and PP boys displayed comparable results for the studied variables, including serum insulin-like growth factor I, sex hormone binding globulin, insulin-like growth factor binding proteins 1 and 3, indices of circulating glucose and insulin responsiveness to an oral glucose load, and birth weight SD score. In conclusion, the present results indicate that adrenarche-driven PP in boys is, in contrast to PP in girls, not associated with a cluster of endocrine-metabolic abnormalities and is not related to reduced fetal growth. These observations support the view that adrenarche-driven PP in boys may be regarded as a variant of normal development.

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Section: Discussionsupporting

confidence: 50%

Pronounced Adrenarche and Precocious Pubarche in Boys

et al. 1999

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“…In this patient, early morning levels of 17-OHP and adrenal androgens were elevated, and 17-OHP levels further increased to levels seen in NCAH after administration of ACTH. [ 5 ] As basal levels of 17-OHP can be normal in NCAH,[ 6 ] an ACTH stimulation test remains an important tool in the evaluation of children with signs of sex or age inappropriate virilization.…”

Section: Discussionmentioning

confidence: 99%

Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome

Mishra¹,

Pritti²,

Aggarwal³

et al. 2015

J Hum Reprod Sci

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We present a patient with nonclassic congenital adrenal hyperplasia (NCAH) misdiagnosed as mosaic Turner syndrome. She presented with complaints of primary infertility. Short stature, the presence of facial hair and hoarse voice was also noted. She had primary amenorrhea and was advised for karyotype at 16 years of age, which was reported as 45, X[20]/46, XX[80], stating her as a case of mosaic Turner syndrome. Clitoroplasty was done at 21 years of age for clitoromegaly, which was noticed during puberty. The diagnosis of mosaic Turner could not explain the virilization. Therefore, we repeated the karyotype, which revealed 46, XX in more than 100 metaphases and was sufficient to exclude mosaicism. Furthermore, the endocrinological evaluation revealed high testosterone level with a normal 17 alpha-hydroxyprogesterone (17-OHP). The presence of pubertal onset virilization with a karyotype of 46, XX and raised testosterone level with normal 17-OHP level, raised the suspicion of NCAH for which adrenocorticotropic hormone stimulation test was done which confirmed the diagnosis of NCAH.

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“…The cited authors could not define any diagnostic clinical characteristic of NCAH patients; even bone-age was not informative. Similarly, Ibáñez et al [17] were unable to identify any clinical parameter differentiating PP patients into those with or without NCAH.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea

Binay

Şimşek

Çilingir

et al. 2014

International Journal of Endocrinology

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Background. Nonclassic congenital adrenal hyperplasia (NCAH), caused by mutations in the gene encoding 21-hydroxylase, is a common autosomal recessive disorder. In the present work, our aim was to determine the prevalence of NCAH presenting as premature pubarche (PP), hirsutism, or polycystic ovarian syndrome (PCOS) and to evaluate the molecular spectrum of CYP21A2 mutations in NCAH patients. Methods. A total of 126 patients (122 females, 4 males) with PP, hirsutism, or PCOS were included in the present study. All patients underwent an ACTH stimulation test. NCAH was considered to be present when the stimulated 17-hydroxyprogesterone plasma level was >10 ng/mL. Results. Seventy-one of the 126 patients (56%) presented with PP, 29 (23%) with PCOS, and 26 (21%) with hirsutism. Six patients (4,7%) were diagnosed with NCAH based on mutational analysis. Four different mutations (Q318X, P30L, V281L, and P453S) were found in six NCAH patients. One patient with NCAH was a compound heterozygote for this mutation, and five were heterozygous. Conclusion. NCAH should be considered as a differential diagnosis in patients presenting with PP, hirsutism, and PCOS, especially in countries in which consanguineous marriages are prevalent.

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Usefulness of an ACTH Test in the Diagnosis of Nonclassical 21-Hydroxylase Deficiency among Children Presenting with Premature Pubarche

Cited by 37 publications

References 15 publications

Pronounced Adrenarche and Precocious Pubarche in Boys

Pronounced Adrenarche and Precocious Pubarche in Boys

Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome

Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea

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