Inhibin B and AMH for Diagnosis of Hypogonadotropic Hypogonadism in Boys Under One Year of Age: A Case-Control Study.

IF 5 2区医学 Q1 ENDOCRINOLOGY & METABOLISM

Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-04-07 DOI:10.1210/clinem/dgaf219

Tifenn Gueguen, Laetitia Martinerie, Sarah Castets, Vanessa Menut, Carine Villanueva, Anne Sophie Lambert, Kevin Perge, Natacha Bouhours-Nouet, Lucie Levaillant, Tristan Avril, Dominique Simon, Marc de Kerdanet, Najiba Lahlou, Sabine Baron, Rachel Reynaud, Marc Nicolino, Claire Bouvattier, Regis Coutant

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引用次数: 0

Abstract

Context: Congenital hypogonadotropic hypogonadism (CHH) in infant boys is a rare disorder that can manifest as micropenis and/or cryptorchidism. Mini puberty is considered a window of opportunity for CHH diagnosis and treatment. The lack of testosterone (T) elevation during this period is the gold standard for CHH diagnosis, but hormonal evaluation is not always available at this time.

Objectives: The aim was to compare inhibin B (INHB), anti-Mullerian hormone (AMH), T, LH, and FSH between infant boys (1 to 365 days) with micropenis and/or cryptorchidism due to isolated CHH (iCHH), CHH as part of combined pituitary hormone deficiency (CPHD), or of idiopathic origin (controls), and to determine discriminating cutoffs for CHH diagnosis based on sensitivity (Se) and specificity (Sp).

Methods: This multicenter study from seven University Hospitals in France included 138 boys aged 0 to 12 months (58 with iCHH, including 28 with a positive molecular diagnosis, 32 with CPHD, and 48 controls). Four periods of interest were studied: between 1 to 4 days, 15 to 65 days (early mini puberty, corresponding to the T peak), 66 to 179 days (late mini puberty), and 180 to 365 days (post mini puberty).

Results: Out of mini puberty, the best-discriminating hormones were INHB between 1-4 days (Se/Sp 100%/75% at 150 pg/mL, and 89%/100% at 85 pg/mL), and INHB and AMH after 180 days (INHB, Se/Sp 100%/100% at 100 pg/mL)(AMH, Se/Sp 100%/92% at 600 pmol/L, and 75%/100% at 370 pmol/L). INHB and/or AMH discriminating performances were good (area under the ROC curve > 0.95) across all four periods.

Conclusion: Inhibin B and/or AMH can be used to diagnose CHH in boys < 1 year of age.

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来源期刊

Journal of Clinical Endocrinology & Metabolism 医学-内分泌学与代谢

CiteScore

11.40

自引率

5.20%

发文量

673

审稿时长

1 months

期刊介绍： The Journal of Clinical Endocrinology & Metabolism is the world"s leading peer-reviewed journal for endocrine clinical research and cutting edge clinical practice reviews. Each issue provides the latest in-depth coverage of new developments enhancing our understanding, diagnosis and treatment of endocrine and metabolic disorders. Regular features of special interest to endocrine consultants include clinical trials, clinical reviews, clinical practice guidelines, case seminars, and controversies in clinical endocrinology, as well as original reports of the most important advances in patient-oriented endocrine and metabolic research. According to the latest Thomson Reuters Journal Citation Report, JCE&M articles were cited 64,185 times in 2008.