ECEESPE2025 Poster Presentations Pituitary, Neuroendocrinology and Puberty (162 abstracts)
Hypogonadotropic hypogonadism diagnosis in boys under one year of age based on gonadotrophins, testosterone, antimullerian hormone (AMH) and inhibin B (INHB) measurements
Tifenn Guéguen 1 , Martinerie Laetitia 2 , Sarah Castets 3 , Vanessa Menut 4 , Carine Villanueva 5 , Anne-Sophie Lambert 6 , Kevin Perge 5 , Bouhours-Nouet Natacha 1 , Levaillant Lucie 1 , Tristan Avril 2 , Dominique Simon 2 , Marc De Kerdanet 7 , Sabine Baron 4 , Rachel Reynaud 3 , Marc Nicolino 5 , Morel Bouvattier Claire 6 & Regis Coutant 8,8
1University Hospital, Angers, Angers, France; 2CHU Robert Debré, Assistance Publique Hôpitaux de Paris, Paris, France; 3Assistance Publique-Hôpitaux de Marseille, Marseille, France; 4University Hospital, Nantes, Nantes, France; 5Civil Hospices of Lyon, Lyon, France; 6CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Paris, France; 7University Hospital, Rennes, Rennes, France; 8CHU d’Angers, Unité d’ Endocrinologie Diabetologie Pédiatrique, Angers, France
JOINT2778
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 increase during this period is the gold standard for CHH diagnosis, but hormonal evaluation is not always available at this time. No cutoff values for the hypothalamic-pituitary-gonadal (HPG) hormones have been proposed before one year of age.
Objectives: The aim was to compare inhibin B (INHB), anti-Mullerian hormone (AMH), testosterone, 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 132 boys aged 0 to 12 months with FSH < + 2 SD scores (58 with iCHH, including 27 with a positive molecular diagnosis, 32 with CPHD, and 42 controls). Three periods of interest were studied: between 1 to 4 days, 15 to 65 days (mini puberty), and 66 to 365 days (after the testosterone peak of mini puberty).
Results: The best-discriminating hormone was INHB between 1-4 days (Se/Sp were 100%/83% at 150 pg/mL, and 89%/100% at 85 pg/mL), testosterone between 15-65 days (Se/Sp 100%/100% at 2.3 nmol/l), and INHB and AMH after 65 days (INHB, Se/Sp 100%/85% at 170 pg/mL and 88%/100% at 120 pg/mL)(AMH, Se/Sp 100%/71% at 800 pmol/l, and 60%/100% at 400 pmol/l).
Conclusion: Inhibin B < 85 pg/mL between 1-4 days, testosterone < 2.3 mmol/l between 15 65 days, and INHB < 120 pg/mL and AMH < 400 pmol/l between 66-365 days are associated with a high risk of CHH when FSH levels are low.
Volume 110
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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