BSPED2024 Poster Presentations Gonadal, DSD and Reproduction 2 (7 abstracts)
Towards best practice therapies for patients with gonadotropin deficiency in minipuberty and puberty
Sebastian Castro 1,2 , Elisabeth Laurer 3 , Rachel Varughese 1,4 , Jillian Bryce 5 , Faisal Ahmed 5,6 , Rodolfo Rey 2 , Wolfgang Hogler 3 , Sabine Heger 7 , Anna Nordenstrom 8 , Julia Rohayem 9 & Sasha Howard 1,10
1Centre for Endocrinology, QMUL, London, United Kingdom; 2CEDIE, FEI - CONICET, Buenas Aires, Argentina; 3Johannes Kepler University, Linz, Austria; 4Great Ormond Street Hospital for Children, London, United Kingdom; 5University of Glasgow, Glasgow, United Kingdom; 6Royal Hospital for Children, Glasgow, United Kingdom; 7Children’s Hospital Hannover, Hannover, Germany; 8Karolinska Institutet, Stockholm, Sweden; 9Children´s Hospital of Eastern Switzerland, St Gallen, Switzerland; 10Barts Health NHS Trust, London, United Kingdom
Gonadotropin deficiency, secondary either to hypogonadotropic hypogonadism with hypothalamic gonadotropin-releasing hormone (GnRH) deficiency, or to combined pituitary hormone deficiency, is a rare condition where even expert centres manage only small numbers of patients each year. Best practice therapies are not clearly defined, although the case for supporting replacement of combined gonadotropins - in infancy to replace minipuberty and in adolescence to replace puberty - in male patients is developing at pace. Optimal management of females in childhood has been minimally studied. A key step in improving understanding of best practice in this condition is the collection of geographically widespread data. This is facilitated by standardised and accessible international data collection. Our group has established protocols for both gonadotropin replacement of puberty in males with hypogonadotropic hypogonadism, and of minipuberty in infancy in males with central hypogonadism with micropenis and/or cryptorchidism. We are developing a new electronic registry of hypogonadotropic hypogonadism (I-HH registry, 4th module in the sex development and maturation [SDM] registries series), due to go-live in summer 2024, and an international survey of clinicians to assess current practice in minipuberty. Both the I-HH module and international survey have been created by an international consortium of paediatric endocrine clinicians. An initial project to review data from patients registered with hypogonadotropic hypogonadism within the existing I-DSD Registries has assessed data on 60 patients from 7 countries. Patients are split between Kallmann syndrome and normosmic hypogonadotropic hypogonadism, with 67% males and 33% females. Data are available on diagnostic testing, family history and follow up. Future analyses within I-HH will examine pubertal induction practices, including therapeutic regime, monitoring practices and response to therapy. This database is also key to recording long-term outcomes for young patients, particularly pertaining to fertility. The minipuberty survey using the Jotform platform will capture data on referral pathways, investigations for absent male minipuberty and replacement with either testosterone or central hormone therapy. Distribution channels include society newsletters, national and international conferences, and email snowballing. Results of the survey will depict the current landscape of male minipuberty and guide efforts to address barriers to diagnostic testing and optimal management of gonadotropin deficiency.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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