BSPED2025 Oral Communications Endocrine Oral Communications 1 (8 abstracts)
Pilot data from the I-HH registry: improving management in hypogonadotropic hypogonadism
Rachel Varughese 1 , Marco Bonomi 2 , Gary Butler 3 , Toby Candler 4 , Tim Cole 3 , Mehul Dattani 5 , Sabine Heger 6 , Channa Jayasena 7 , Nils Krone 8 , Anna Nordenström 9 , Julia Rohayem 10 , Senthil Senniappan 11 , Claire Wood 12 , Jillian Bryce 13 , Malika Alimussina 13 , Aleksandra Kapczuk 13 , Faisal Ahmed 13 & Sasha Howard 1
1Queen Mary University London, London, United Kingdom; 2University of Milan, Milan, Italy; 3UCL Institute of Child Health, London, United Kingdom; 4University Hospital Bristol NHS Foundation Trust, Bristol, United Kingdom; 5UCL Great Ormond Street Institute of Child Health, London, United Kingdom; 6Children’s Hospital Hannover, Hannover, Germany; 7Imperial College London, London, United Kingdom; 8Sheffield Children’s Hospital NHS Foundation Trust, Sheffield, United Kingdom; 9Karolinska University Hospital, Stockholm, Sweden; 10Children´s Hospital of Eastern Switzerland, St. Gallen, Switzerland; 11Alder Hey Children’s Hospital NHS Trust, Liverpool, United Kingdom; 12Newcastle University, Newcastle, United Kingdom; 13University of Glasgow, Glasgow, United Kingdom
Background: Hypogonadotropic hypogonadism (HH) is a rare endocrine disorder, either congenital due to pathogenic variant(s) in over 60 known genes or acquired, usually secondary to a brain tumour. The condition has significant implications for growth and psychosocial wellbeing in both sexes, and fertility in men. Despite growing awareness, timely diagnosis remains a challenge, and management approaches vary, particularly with the evolving role of gonadotropin therapy in male puberty. The International Hypogonadotropic Hypogonadism (I-HH) Registry, hosted on the SDMregistries platform, was established to support standardised data collection and facilitate international collaboration to evaluate treatment strategies and clinical outcomes.
Methods: The first comprehensive data extraction from the I-HH Registry was completed in April 2025, capturing baseline data from 96 individuals (59 males, 37 females) across 15 clinical centres in 13 countries. Participants ranged from 10 to 34.5 years of age. Pubertal induction was initiated in 49 patients (34 males, 15 females), at a median age of 14 years (IQR 12–17; range 11–19). An additional female received treatment for pubertal completion. Among males, 13 (22%) reported olfactory deficits—8 with anosmia and 5 with hyposmia; 3 females (9%) had anosmia. Micropenis was documented in 15 males (25%) and undescended testes in 17 (29%), with 14 (24%) presenting both. Genetic analyses were available for 32 patients, revealing pathogenic variants in HH-associated genes including ANOS1, FGFR1, PROKR2, CHD7, SOX10, GNRHR, and PROP1. Medication data from 34 males showed that 16 were treated with gonadotropins, across four centres in three countries. Seven females underwent fertility treatment; no males had completed fertility therapy at the time of data collection. Spermatogenesis was assessed in four males with sperm counts ranging from 14.4 to 59.9 ×106/ml in those post-gonadotropin therapy.
Conclusion: This early dataset from the I-HH Registry highlights the feasibility of coordinated, prospective data collection for HH. While current data are primarily cross-sectional, the registry establishes a framework for evaluating the impact of clinical management and long-term outcomes from longitudinal data. Future directions include incorporation of growth metrics such as peak height velocity using SITAR growth curve modelling.
Volume 111
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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