ISSN 1662-4009 (online)

ey0015.1-9 | New clinical investigation | ESPEYB15

1.9 Divergent responses to kisspeptin in children with delayed puberty

YM Chan , MF Lippincott , TO Kusa , SB Seminara

To read the full abstract: JCI Insight 2018;3. pii: 99109The effects of kisspeptin administration in adults are well known. Whatever, the mode of administration, kisspeptin elicits an increase of LH and FSH blood levels in normal men and women. By analogy to rodents and non-human primates, it has been speculated that the response to kisspeptin is majorated at puberty in humans, which could be...

ey0016.6-10 | Ethical Aspects | ESPEYB16

6.10. Management of pediatric patients with DSD and ambiguous genitalia: Balancing the child's moral claims to self-determination with parental values and preferences

DA Diamond , J Swartz , A Tishelman , J Johnson , YM Chan

J Pediatr Urol. 2018 Oct;14(5):416.e1–416.e5.doi: 10.1016/j.jpurol.2018.04.029. PubMed ID: 29903608This paper discusses the management of three DSD cases with difficult sex assignment at a US center. The goal of this report was to explore factors involved in parental decision making and the challenge to reconcile respect for the child’s integrity with ...

ey0017.7-4 | Clinical Guidance | ESPEYB17

7.4. Using kisspeptin to predict pubertal outcomes for youth with pubertal delay

YM Chan , MF Lippincott , P Sales Barroso , C Alleyn , J Brodsky , H Granados , SA Roberts , C Sandler , A Srivatsa , SB Seminara

To read the full abstract: Journal of clinical endocrinology and metabolism vol. 105,8 (2020): dgaa162. doi: https://academic.oup.com/jcem/article/105/8/dgaa162/5813981This longitudinal study (n =16) suggests that responses to kisspeptin administration could predict later pubertal outcomes for patients with delayed puberty. The management of...

ey0020.4-11 | Psychological Effects of Hormone Treatments | ESPEYB20

4.11. Psychosocial functioning in transgender youth after 2 years of hormones

D Chen , J Berona , YM Chan , D Ehrensaft , R Garofalo , MA Hidalgo , SM Rosenthal , AC Tishelman , J Olson-Kennedy

Brief summary: A four centre prospective longitudinal study of 315 transgender and non-binary adolescents in the USA showed improvement in gender congruence and appearance and some reduction of depression and anxiety (but not in birth-registered males) after 2 years of gender affirming hormone (GAH) treatment.The race is on to provide clear evidence to support hormonal intervention for transgender adolescents. This longitudinal study employed a number of...

ey0021.7-7 | Clinical Guidance and Studies | ESPEYB21

7.7. Contributions of common genetic variants to constitutional delay of puberty and idiopathic hypogonadotropic hypogonadism

MF Lippincott , EC Schafer , AA Hindman , W He , R Brauner , A Delaney , R Grinspon , JE Hall , JN Hirschhorn , K McElreavey , MR Palmert , R Rey , SB Seminara , RM Salem , YM Chan , Consortium Delayed Puberty Genetics

Brief Summary: this case-control study shows that the common genetic variants that influence pubertal timing in the general population also contribute to constitutional delay of puberty (CDP) and less significantly to normosmic idiopathic hypogonadotropic hypogonadism (IHH).CDP and IHH are two different conditions that are notoriously difficult to distinguish clinically on initial presentation. Because CDP has clear heritability traits1, and h...

ey0021.7-8 | Clinical Guidance and Studies | ESPEYB21

7.8. Prevalence of deleterious variants in MC3R in patients with constitutional delay of growth and puberty

K Duckett , A Williamson , JWR Kincaid , K Rainbow , LJ Corbin , HC Martin , RY Eberhardt , QQ Huang , ME Hurles , W He , R Brauner , A Delaney , L Dunkel , RP Grinspon , JE Hall , JN Hirschhorn , SR Howard , AC Latronico , AAL Jorge , K McElreavey , V Mericq , PM Merino , MR Palmert , L Plummer , RA Rey , RC Rezende , SB Seminara , K Salnikov , I Banerjee , BYH Lam , JRB Perry , NJ Timpson , P Clayton , YM Chan , KK Ong , S O'Rahilly

Brief Summary: this large patient cohort study identified an overrepresentation of functionally damaging variants in MC3R in individuals with constitutional delay of growth and puberty but not in patients with IHH.Melanocortin 3 receptor (MC3R) is a permissive signal expressed by hypothalamic kisspeptin-neurokinin B-dynorphin (KNDY) neurons. It activates puberty through the leptin-proopiomelanocortin pathway in response to nutritional signaling<...