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Multicenter Study
. 2025 Nov 18;110(12):e4119-e4128.
doi: 10.1210/clinem/dgaf219.

Inhibin B and AMH for Diagnosis of Hypogonadotropic Hypogonadism in Boys Under 1 Year of Age: A Case-control Study

Tifenn Gueguen  1   2 , Laetitia Martinerie  3   4   5 , Sarah Castets  6   7 , Vanessa Menut  8 , Carine Villanueva  9   10 , Anne Sophie Lambert  11   12   13 , Kevin Perge  9   10 , Natacha Bouhours-Nouet  1   2 , Lucie Levaillant  1   2 , Tristan Avril  3   4   5 , Dominique Simon  3   4   5 , Marc de Kerdanet  14 , Najiba Lahlou  15 , Sabine Baron  8 , Rachel Reynaud  6   7 , Marc Nicolino  9   10 , Claire Bouvattier  11   12   13 , Regis Coutant  1   2
Affiliations
Multicenter Study

Inhibin B and AMH for Diagnosis of Hypogonadotropic Hypogonadism in Boys Under 1 Year of Age: A Case-control Study

Tifenn Gueguen et al. J Clin Endocrinol Metab. .

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-Müllerian 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 7 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 to 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 receiver operating characteristic curve ≥ 0.95) across all 4 periods.

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

Keywords: AMH; hypogonadotropic hypogonadism; infant; inhibin B; male; testosterone.

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Figures

Figure 1.
Figure 1.
Flowchart of the study. Abbreviations: CPHD, combined pituitary hormone deficiency; HPG, hypothalamic-pituitary-gonad; PAIS, partial androgen insensitivity syndrome.
Figure 2.
Figure 2.
Inhibin B, AMH, testosterone, LH, and FSH in boys with CHH and isolated cryptorchidism/micropenis (C), 1 to 4 days, between 15 and 65 days, between 66 days and 179 days, and between 180 and 365 days. Black horizontal lines depict medians. The light gray rectangles represent the normal range of hormone concentration (3rd; 97th percentile) at the corresponding meantime, according to the literature (5, 6, 25, 26). Abbreviations: AMH, anti-Müllerian hormone; C, controls; CHH, congenital hypogonadotropic hypogonadism.
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