hrp0094fc7.2 | Fetal Endocrinology and Multisystem Disorders | ESPE2021

Maternal, rather than fetal, genetic variation in vitamin D metabolism is associated with umbilical cord blood 25-hydroxyvitamin D in pregnancies supplemented with cholecalciferol: findings from the MAVIDOS randomized controlled trial

Moon Rebecca , D’Angelo Stefania , Curtis Elizabeth , Cooke Laura , Davies Justin , Crozier Sarah , Godfrey Keith , Graham Nikki , Holloway John , Lewis Rohan , Cleal Jane , Inskip Hazel , Cooper Cyrus ,

Background: Neonatal vitamin D deficiency (VDD) can result in symptomatic hypocalcemia, seizures and cardiomyopathy and has been associated with reduced bone mineralization in childhood, but is potentially preventable with antenatal cholecalciferol supplementation. Single nucleotide polymorphisms (SNP) in the vitamin D metabolism pathway are associated with serum 25-hydroxyvitamin D [25(OH)D] in adulthood. We assessed whether maternal and/or offspring SNPs in ...

hrp0094p1-142 | Sex Endocrinology and Gonads B | ESPE2021

Investigation of primary adrenal insufficiency (PAI) in children with 46,XY differences in sex development (DSD)

Man Elim , Peters Catherine , Brain Caroline , Lichtarowicz-Krynska Ewa , Bahl Shailini , Buchanan Charles , Spoudeas Helen , Aitkenhead Helen , Hindmarsh Peter , Dattani Mehul , Achermann John ,

Background: When a baby presents with atypical genitalia, the most important diagnosis to consider is 21-hydroxylase deficiency (21OHD, CAH, 46,XX). However, primary adrenal insufficiency (PAI) can also occur in 46,XY children with differences in sex development (DSD), although this is less common. Known causes of 46,XY DSD-PAI include high blocks in steroidogenesis (STAR, CYP11A1); steroidogenic enzyme defects (HSD3B2, CYP17A1</...

hrp0094p2-17 | Adrenals and HPA Axis | ESPE2021

A prospective study of children 0-8 years with congenital adrenal hyperplasia and adrenal insufficiency on treatment with hydrocortisone granules monitored by 17-OHP saliva sampling

Neumann Uta , Braune Katarina , Whitaker Martin J , Wiegand Susanna , Krude Heiko , Porter John , Digweed Dena , Voet Bernard , Ross Richard , Blankenstein Oliver ,

Context: Children with congenital adrenal hyperplasia (CAH) and adrenal insufficiency (AI) require hydrocortisone replacement from birth. Continuous monitoring of therapy during growth is necessary. Until now, children were dependent on off label use with divided hydrocortisone tablets or pharmacy compounded capsules. A licensed paediatric formulation that allows accurate dosing down to 0.5mg is now available.Objective: ...

hrp0094p2-238 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) | ESPE2021

Analysis of Placental Steroidogenesis as a Cause of Recurrent Miscarriage

Suntharalingham Jenifer , Ishida Miho , Buonocore Federica , Valle Ignacio del , Solanky Nita , Demetriou Charalambos , Peskett Emma , Regan Lesley , Moore Gudrun , Achermann John ,

Background: Recurrent miscarriage (RM) is traditionally described as three or more consecutive pregnancy losses and remains a challenging condition, affecting 1-3% of couples trying to conceive. Although factors such as uterine abnormalities, maternal hypothyroidism and parental balanced translocations are associated with RM, in most situations the aetiology is unknown. The coexistence of RM and live births in many families suggests a potential association wit...

hrp0094p2-367 | Pituitary, neuroendocrinology and puberty | ESPE2021

Duplication of Pituitary Gland-plus Syndrome presenting with a Transcranial Nasal Dermoid Cyst

Chandwani Manju , Spilioti Diamantina-Xanthi , Chumas Paul , Symth Alistair , Alvi Sabah , Nix Paul , Warren Daniel , Liddington Mark , Russell John , Elliott Mark ,

Duplicated pituitary gland in association with other midline craniofacial anomalies – also described as DPG-plus syndrome – is extremely rare. So far the only described endocrine associations are precocious or delayed puberty. We describe the multifaceted management of a female infant with DPG-plus syndrome. Interestingly, the patient also presented with trans-cranial nasal dermoid cyst and a nasal dimple with protruding hair, which has not been described in previous...

hrp0097fc13.1 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Genetic evaluation in children with self-limited pubertal delay discloses new candidate genes

Rezende Raissa , Schafer Evan , Kaisinger Lena , He Wen , Andrade Nathalia , Dantas Naiara , Cellin Laurana , Quedas Elisangela , Perry John , Howard Sasha , Claudia Latronico Ana , Chan Yee-Ming , Jorge Alexander

Introduction: Age at pubertal onset is a markedly inherited trait. The most common cause of pubertal delay, self-limited pubertal delay, is defined by the absence of secondary sexual characteristics after 13 years in girls and 14 years in boys, with progression before age 18. This study aimed to detect novel candidate genes for self-limited pubertal delay.Methods: Eighty-one patients with confirmed self-limited delayed p...

hrp0098fc7.6 | GH and IGFs | ESPE2024

Growth, IGF-1 and IGFBP-3 Responses to Oral LUM-201 in OraGrowtH210 and OraGrowtH212 Trials in Pediatric Growth Hormone Deficiency (PGHD) over 12 to 24 Months on Treatment

Petriczko Elzbieta , Cassorla Fernando , Investigator Group OraGrowtH210 , Research Team OraGrowtH212 , Bruchey Aleksandra , Smith Christopher , L. Brincks Erik , C. McKew John , O. Thorner Michael , “Duke” Pitukcheewanont Pisit

Background: LUM-201, a potent long-acting oral GH secretagogue (GHS), acts on the GHS Receptor-1a to induce GH secretion. The best candidates for this investigative oral treatment are pre-pubertal children with moderate GHD (standard stimulation testing peak GH between ≥3 <10ng/ml) that respond positively to the LUM-201 Predictive Enrichment Marker (PEM) test (Bright et al JES, 2021). PEM positive responders have basal serum IGF-1 >30ng/ml and a peak ...

hrp0098fc9.1 | Sex Endocrinology and Gonads | ESPE2024

A tiered approach to exome sequencing analysis in early-onset Primary Ovarian Insufficiency

McGlacken-Byrne Sinead , P Suntharalingham Jenifer , Ishida Miho , Buonocore Federica , del Valle Ignacio , Cameron-Pimblett Antoinette , Genomics UCL , T Dattani Mehul , C Achermann John , S Conway Gerard

Background: Sequencing of Primary Ovarian Insufficiency (POI) cohorts have identified variants in >100 “POI genes” in up to 50% of women. Establishing pathogenicity of these variants is challenging. Whether early-onset POI (EO-POI; adolescent-onset) has a unique genetic profile remains unknown.Methods: We performed exome sequencing (Nonacus) in an EO-POI cohort (sporadic and familial) and unaffected family...

hrp0098p1-214 | Adrenals and HPA Axis 3 | ESPE2024

The unique urinary steroid metabolome in infants with P450 oxidoreductase deficiency in the first week of life

S. Baranowski Elizabeth , Idkowiak Jan , Waterson John , D’Harlingue Arthur , H. Olney Ann , E. Ivison Hannah , A. Hughes Beverley , W. Mueller Jonathan , Arlt Wiebke , H.L. Shackleton Cedric

Background: P450 oxidoreductase (POR) is a co-factor critical for the function of type 2 microsomal cytochrome P450 enzymes. POR deficiency (PORD) results in a rare form of congenital adrenal hyperplasia, with combined attenuation of CYP21A2 and CYP17A1 steroidogenic enzymes. It is characterised by combined deficiencies of glucocorticoids and androgens postnatally. Differences in sex development can arise in both sexes due to antenatal activation of the altern...

hrp0098p2-351 | Late Breaking | ESPE2024

Up to 5 years of once-weekly somatrogon treatment in pediatric patients with growth hormone deficiency: results from an open-label extension of a global Phase 3 study

Silverman Lawrence , Steelman Joel , Choe John , Stawerska Renata , Deal Cheri , Wajnrajch Michael , Thomas Marc , La Torre Daria , Phillip Moshe , Taylor Carrie , Wang Rong , Cara Jose

Objective: Somatrogon, a long-acting recombinant human growth hormone (rhGH) is approved as a once-weekly treatment for pediatric growth hormone deficiency (pGHD). This abstract describes the long-term efficacy and safety of somatrogon in patients with pGHD following up to 5 years of treatment in a global, Phase 3 study (NCT02968004).Methods: In the main study period, patients were randomized to receive either once-weekl...