Anthropometric and Endocrine Features in Girls with Isolated Premature Pubarche or Non-Classical Congenital Adrenal Hyperplasia

Accetta, Solange Garcia; Domênico, Khristiane Di; Ritter, Clarice Gabardo; Ritter, Anelise Teichmann; Capp, Edison; Spritzer, Poli Mara

doi:10.1515/jpem.2004.17.5.767

Cited by 8 publications

(8 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…We examined all IPP patients, and the six patients for whom NCAH was diagnosed as the cause of PP, in an effort to identify factors predictive of NCAH development. Most prior studies have proposed that patients with NCAH exhibit accelerated bone-age maturation [23, 29–31] and increased basal or stimulated levels of 17-OHP [29, 32, 33]. In the present study, as expected, the basal and stimulated levels of 17-OHP were higher ( P < 0.001), and the bone-age SD was more advanced ( P < 0.05), in children with NCAH.…”

Section: Discussionsupporting

confidence: 83%

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

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionsupporting

confidence: 83%

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

View full text Add to dashboard Cite

show abstract

“…Our observations support previous studies from others and our own centre, indicating that PP may not always reflect simply an exaggerated premature adrenarche, but rather a variant of the CYP21A2 gene in a heterozygous or homozygous state. [15][16][17] At puberty and later on, a PCO-like phenotype predominated with no relation to genotype (C/NC or NC/NC). Specifically, clinical hyperandrogenism associated with menstrual irregularities was found in 63Á2%, amenorrhoea (primary and secondary) in 13Á5% and fertility problems in 4Á3% of the subjects.…”

Section: Discussionmentioning

confidence: 99%

The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene

Livadas

Dracopoulou

Dastamani

et al. 2014

Clinical Endocrinology

View full text Add to dashboard Cite

NC-CAH has a variable phenotype depending on the age, gender and the presence of a classical mutation. A peak cut-off value of 17OHP post-ACTH lower than 30 nm excludes the diagnosis of NC-CAH, whereas basal 17OHP <6 nm may represent a false-negative result. A significant number of patients harboured a classical mutation, a finding which requires genotyping of the partner for genetic counselling.

show abstract

“…Non-classic congenital adrenal hyperplasia may present with a wide spectrum of clinical manifestations from early adrenarche/pubarche in children with mild bone age acceleration up to secondary true precocious or early puberty with progressive hyperandrogenism through the adolescent period [44][45][46][47]. Symptoms of androgen excess are obviously easier to notice in affected girls than in boys.…”

Section: Diagnostic Strategymentioning

confidence: 99%

Non-Classic Disorder of Adrenal Steroidogenesis and Clinical Dilemmas in 21-Hydroxylase Deficiency Combined with Backdoor Androgen Pathway. Mini-Review and Case Report

Sumińska

Bogusz‐Górna

Wegner

et al. 2020

IJMS

View full text Add to dashboard Cite

Congenital adrenal hyperplasia (CAH) is the most common cause of primary adrenal insufficiency in children and adolescents. It comprises several clinical entities associated with mutations in genes, encoding enzymes involved in cortisol biosynthesis. The mutations lead to considerable (non-classic form) to almost complete (classic form) inhibition of enzymatic activity, reflected by different phenotypes and relevant biochemical alterations. Up to 95% cases of CAH are due to mutations in CYP21A2 gene and subsequent 21α-hydroxylase deficiency, characterized by impaired cortisol synthesis and adrenal androgen excess. In the past two decades an alternative (“backdoor”) pathway of androgens’ synthesis in which 5α-androstanediol, a precursor of the 5α-dihydrotestosterone, is produced from 17α-hydroxyprogesterone, with intermediate products 3α,5α-17OHP and androsterone, in the sequence and with roundabout of testosterone as an intermediate, was reported in some studies. This pathway is not always considered in the clinical assessment of patients with hyperandrogenism. The article describes the case of a 17-year-old female patient with menstrual disorders and androgenization (persistent acne, advanced hirsutism). Her serum dehydroepiandrosterone sulfate and testosterone were only slightly elevated, along with particularly high values for 5α-dihydrotestosterone. In 24 h urine collection, an increased excretion of 16α-OHDHEA—a dehydroepiandrosterone metabolite—and pregnanetriolone—a 17α-hydroxyprogesterone metabolite—were observed. The investigations that we undertook provided evidence that the girl suffered from non-classic 21α-hydroxylase deficiency with consequent enhancement of the androgen “backdoor” pathway in adrenals, peripheral tissues or both, using adrenal origin precursors. The paper presents diagnostic dilemmas and strategies to differentiate between various reasons for female hyperandrogenism, especially in childhood and adolescence.

show abstract

Anthropometric and Endocrine Features in Girls with Isolated Premature Pubarche or Non-Classical Congenital Adrenal Hyperplasia

Abstract: Slight acceleration of height and bone age, one of the clinical manifestations of precocious pubarche, is unlikely to be progressively severe.

Cited by 8 publications

References 21 publications

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

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

The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene

Non-Classic Disorder of Adrenal Steroidogenesis and Clinical Dilemmas in 21-Hydroxylase Deficiency Combined with Backdoor Androgen Pathway. Mini-Review and Case Report

Contact Info

Product

Resources

About