Endocrine Abstracts

An increasing number of transgender adolescents seeks medical care. After careful assessment and in the absence of contraindications, adolescents who have entered puberty, wish treatment and can provide informed consent can be treated with a GnRH analogue (GnRHa). This prevents further development of secondary sex characteristics incongruent with gender identity and provides the adolescent time to consider the option to undergo further gender affirming treatment. Studies on th...

Background: Resistance to thyroid hormone (TH) alpha (RTHα), caused by heterozygous mutations in THRA, is characterized by abnormal thyroid function tests and features due to tissue-specific hypothyroidism, including disproportional short stature, variable motor and cognitive defects, macrocephaly and macroglossia, constipation and anemia. Mutant receptors display defective T3 binding resulting in impaired transcriptional activity. Dominant negative inhibition of the WT r...

Background: Congenital Adrenal Hyperplasia (CAH) requires exogenous steroid replacement and can be monitored with 17-OH Progesterone and Androstenedione. We reviewed real world data to evaluate these markers in relation to hydrocortisone dose in patients treated in 21 centres throughout 14 countries.Method: Retrospective cohort study using pseudonymised data from patients with 21α-Hydroxylase Deficiency recorded in the International Congenital Adren...

Introduction: Disorders of Sex Development (DSD) can be associated with an increased risk of germ cell tumours depending on the underlying diagnosis. To date however knowledge regarding the indications and timing of gonadectomy is lacking.Methods: The I-DSD Registry was interrogated for anonymised information regarding the diagnosis, karyotype, sex of rearing and timing of gonadectomy, if undertaken, of all individuals of any karyotype who were over the ...

Introduction: There is no unified approach in clinical practice regarding the medical management of congenital adrenal hyperplasia (CAH), despite existent international guidance. We aimed to explore geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids of patients with CAH.Methods: We collected data recorded by 33 centres from 16 countries in the I-CAH Registry. We analysed patient visits between 1982 and 2018,...

Background: In 2019, the International CAH Registry (I-CAH) performed a benchmarking exercise of acute adrenal insufficiency related adverse events including adrenal crises (AC) and sick day episodes (SDE).Methods: In 2022, I-CAH data on children aged <18 years at first visit with 21-hydroxylase deficiency CAH from 35 centres in 19 countries were analysed to examine the current occurrence of SDE and AC and compared t...

Aims: We studied the association of newborn screening (NBS) on early infancy outcomes in 21-hydroxylase deficiency (21OHD) congenital adrenal hyperplasia (CAH), using I-CAH registry data.Methods: From 2018-2023, data was available for 121 infants with 21OHD CAH (52 male) during the first 90 days of life from 26 centres in 15 countries. NBS was performed in 15 centres from 9 countries.Result...

Background: The reported occurrence and management of acute adrenal insufficiency–related adverse events in children vary widely between centres and may depend on available resources.Methods: Real world data from the I-CAH Registry from 44 centres [32 from high income (HIC) and 12 from low/middle income (LMIC) countries] and a total number of 607 children were linked to the results of a health care survey of local r...

Background: The reported occurrence and management of acute adrenal insufficiency–related adverse events in children vary widely between centres and may depend on available resources.Methods: Real world data from the I-CAH Registry that included a total of 2478 patient years follow-up on 607 children from 44 centres were studied and their association to the results of a health care survey of these centres that enqui...