Basal levels of 17-hydroxyprogesterone can distinguish children with isolated precocious pubarche

Grandone, Anna; Marzuillo, Pierluigi; Luongo, Cristina; Toraldo, R; Mariani, Marisa; Giudice, Emanuele Miraglia del; Perrone, Laura

doi:10.1038/s41390-018-0096-7

Cited by 4 publications

(5 citation statements)

References 23 publications

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“…Our results confirm that, a posteriori, the ACTH test was unnecessary in more than 90% of cases. These results are in line with several research papers published in the last 20 years [ 7 , 15 , 20 , 21 ]. To reduce the use of this time-consuming, stressful, and expensive procedure, it seems reasonable to follow the more recent CAH guidelines [ 17 ], which indicate that it is possible to exclude or diagnose NC21OHD without performing an ACTH test for 17-OHP levels of <200 ng/mL and >1000 ng/mL, respectively.…”

Section: Discussionsupporting

confidence: 92%

“…The same guidelines suggest performing ACTH testing in cases with intermediate basal 17-OHP levels (200–1000 ng/dL) [ 17 ]. We agree that in a large proportion of our patients with premature pubarche, basal 17-OHP of <200 ng/mL could have been sufficiently accurate to exclude, per se, the diagnosis of NC21OHD [ 15 , 21 ]. In our series, a basal 17-OHP level of <200 ng/dL represented a threshold with 99% negative predictive value.…”

Section: Discussionmentioning

confidence: 69%

“…ACTH-stimulated 17-OHP of >30 nmol/l (1000 ng/dL) was considered to be diagnostic for NC21OHD [ 11 ]; otherwise, those with basal serum DHEA-S levels of >40 mcg/dL were considered affected by premature adrenarche (PA), and others without PA or NC21OHD were labeled as idiopathic premature pubarche (IPP) [ 10 , 20 , 21 ].…”

Section: Methodsmentioning

confidence: 99%

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Premature Pubarche: Time to Revise the Diagnostic Approach?

Baronio

Marzatico

Iasio³

et al. 2023

JCM

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Premature pubarche (PP) could represent the first manifestation of non-classic congenital adrenal hyperplasia caused by 21 hydroxylase deficiency (NC21OHD) (10–30% of cases). In the last 20 years, the necessity of performing an ACTH test to diagnose NC21OHD in all cases with PP has been questioned, with conflicting results. This study aims to retrospectively evaluate the predictive value of the basal androgens, 17-OHP levels, and auxological features in suggesting the presence of NC21OHD and, thus, the need for a standard ACTH test to confirm the diagnosis. In all, 111 consecutive patients (87 females) with PP and advanced bone age underwent an ACTH test. Of these, 6/111 cases (1 male) were diagnosed with NC21OHD. The mean baseline 17 hydroxyprogesterone (17-OHP), dehydroepiandrosterone (DHEA), dehydroepiandrosterone sulfate (DHEA-S), delta 4 androstenedione (Δ4A), and testosterone serum levels were higher in NC21OHD patients than in the others (p < 0.05). We found three predictive features for NC21OHD: basal 17 OHP of >200 ng/mL, bone age advance of >2 years, and DHEA-S levels of >228 ng/mL with sensitivity and specificity of 83.3% and 97.1%, 83.3% and 65.7%, and 83.3% and 96.2%, respectively. Our data confirm that the prevalence of NC21OHD is low among patients with PP. Serum 17-OHP of >200 ng/mL could be helpful to decide, in most cases, which patients should undergo the ACTH test. Bone age advance represented an inadequately specific predictive marker of NC21OHD.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 69%

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Premature Pubarche: Time to Revise the Diagnostic Approach?

Baronio

Marzatico

Iasio³

et al. 2023

JCM

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“…El diagnóstico bioquímico de esta patología está relacionado con la de iciencia de la enzima 21-hidroxilasa en el 95 % de los casos y se logra midiendo los niveles de 17-OH progesterona basal y su posterior estimulación con ACTH; las concentraciones de 17-OH progesterona pos-ACTH ≥ 10 ng/mL (30 nmol/L) (18) hacen el diagnóstico. Se recomienda que a los pacientes con clínica de hiperandrogenismo y un nivel basal de 17-OH progesterona en la fase folicular del ciclo > 2 ng/mL (6 nmol/L; punto de corte, sensibilidad del 100 % [IC 95 %: 59,04-100] y especi icidad del 93 % [IC 95 %: 85,3-97,37]) (21) se les realice la prueba con irmatoria de estimulación con ACTH (22,23).…”

Section: Discussionunclassified

Hiperplasia suprarrenal no clásica, características de laboratorio y respuesta al tratamiento. Estudio de cohorte

Lomba

Bermúdez

Salazar

et al. 2021

Rev.ACE

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Objetivo: comparar las características de laboratorio y la respuesta al tratamiento en una cohorte de pacientes con hiperplasia suprarrenal congénita no clásica seguidas durante 12 meses. Métodos: se realizó un estudio en una cohorte final de 38 pacientes con hiperplasia suprarrenal no clásica evaluadas entre enero de 2006 hasta diciembre de 2016 y que tuvieron seguimiento a 1 año. Las características de la población de estudio y la respuesta de 17-hidroxiprogesterona (17-OH progesterona), testosterona y dehidroepiandrosterona sulfato (DHEA-S) se informan a los 6 y 12 meses después del tratamiento con dexametasona y etinilestradiol/acetato de ciproterona. Se realizó una regresión lineal múltiple para explicar el cambio de las variables de resultado (17- OH progesterona, testosterona y DHEA-S), ajustado de acuerdo con el índice de masa corporal (IMC) y la edad como covariables. Resultados: la edad promedio de los participantes fue de 25 años, el IMC promedio fue de 28,3 kg/m2. Las características clínicas más prevalentes fueron el acné (52,6 %) y la oligomenorrea (55 %). El hirsutismo se presentó en todos los casos en algún grado (moderado: 31,6 % y grave: 39,5 %, según la escala de Ferriman y Gallwey). El cambio en los niveles de cada una de las hormonas evidenció una disminución significativa de la mediana del rango intercuartílico de 17-OH progesterona, testosterona y DHEA-S, a los 6 y 12 meses (p < 0,05). En la regresión lineal múltiple, los niveles de testosterona presentaron una variación de acuerdo con el IMC (p = 0,04). En el presente estudio, la terapia farmacológica con dexametasona se aplicó a diferentes dosis y todas las pacientes recibieron anticonceptivos con una respuesta clínica y paraclínica adecuada al año de seguimiento. Conclusión: este estudio sugiere que la combinación de etinilestradiol más acetato de ciproterona con dosis variables de dexametasona disminuye el perfil androgénico en las pacientes con hiperplasia suprarrenal no clásica seguidas durante un año.

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“…Based on one study, a DHEAS level of > 40 μg/dL (LC-MS) is considered adrenarchal [3,18,19]. Basal levels of 17-OHP > 2 ng/mL (200 ng/dL) has been identified as a specific (93%) and sensitive test (100%) for NCCAH [20]. Screening tests often done to evaluate PA include early morning measurements of DHEAS, androstenedione, 17-OHP, and testosterone in patients with PA [21].…”

Section: Introductionmentioning

confidence: 99%

Low prevalence of organic pathology in a predominantly black population with premature adrenarche: need to stratify definitions and screening protocols

Foster

Diaz-Thomas

Lahoti

2020

Int J Pediatr Endocrinol

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Background: Premature adrenarche has been described as clinical and biochemical hyperandrogenism before the age of 8 years in girls and 9 years in boys and absence of signs of true puberty. Adrenal pathology such as adrenal tumors or non-classical congenital adrenal hyperplasia (NCCAH) and exogenous androgen exposure need to be excluded prior to diagnosing (idiopathic) premature adrenarche. Premature adrenarche is more common among black girls compared to white girls and other racial groups. Adrenal pathology such as NCCAH is less common as a cause for premature adrenarche compared with idiopathic premature adrenarche. The evaluation guidelines for premature adrenarche however are not individualized based on racial/ethnic differences. Few studies have been done to evaluate a largely black population with premature adrenarche to assess the incidence of adrenal pathology. Methods: This cross-sectional retrospective study evaluated characteristics of prepubertal patients seen in an endocrine clinic for premature adrenarche. Results: Two hundred and seventy three subjects had signs of early adrenarche. Three subjects were found to have CAH (2 with NCCAH and 1 with late diagnosis classical CAH). None were black. Exogenous androgen exposure was etiology in 4 additional subjects. These 7 patients were excluded from further analysis. The remaining subjects had idiopathic PA (n = 266); 76.7% were females. The mean age at initial visit was 6.42 +/− 1.97 years (with no racial difference) although black subjects were reported symptom onset at a significantly younger age compared to non-Hispanic white patients. Conclusions: Our study showed organic pathology was very uncommon in a predominantly black population with premature adrenarche. Patient factors that influence the probability of an underlying organic pathology including race/ ethnicity should be considered to individualize evaluation.

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Basal levels of 17-hydroxyprogesterone can distinguish children with isolated precocious pubarche

Abstract: Basal 17OHP cut-off of 2 ng/mL was very effective in predicting NCCAH among our patients with PP. Assay-specific cut-off would probably be the best strategy to avoid unnecessary ACTH test.

Cited by 4 publications

References 23 publications

Premature Pubarche: Time to Revise the Diagnostic Approach?

Premature Pubarche: Time to Revise the Diagnostic Approach?

Hiperplasia suprarrenal no clásica, características de laboratorio y respuesta al tratamiento. Estudio de cohorte

Low prevalence of organic pathology in a predominantly black population with premature adrenarche: need to stratify definitions and screening protocols

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