ESPEYB19 6. DSD and Gender Incongruence Sex Hormone Replacement Therapies in DSD (2 abstracts)
6.1. Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline
Nordenström A , Ahmed SF , van den Akker E , Blair J , Bonomi M , Brachet C , Broersen LHA , Claahsen-van der Grinten HL , Dessens AB , Gawlik A , Gravholt CH , Juul A , Krausz C , Raivio T , Smyth A , Touraine P , Vitali D & Dekkers OM
Eur J Endocrinol. 2022 Apr 21;186(6):G9-G49. PMID: 35353710, doi: 10.1530/EJE-22-0073.
Brief Summary: This Endo-European Reference Network guideline was endorsed by the European Society for Pediatric Endocrinology, the European Society for Endocrinology, and the European Academy of Andrology. It provides extensive data on the hormonal management in young individuals with hypogonadism or DSD in need of treatment to induce or sustain puberty. A systematic literature search was conducted, and the evidence was graded according to the Grading of Recommendations, Assessment, Development, and Evaluation system.
Pubertal induction or sex hormone replacement to sustain puberty is required in adolescents with all forms of hypogonadism including DSD. These patients may be identified in the neonatal period because of atypical genitalia, lack of mini puberty, or may be diagnosed in the puberty/adolescence period when pubertal development is delayed, incomplete, absent, or atypical. The assessment of the hypothalamo-pituitary-gonadal axis includes the quantification of serum concentrations of gonadotropins, FSH, and LH, as well as gonadal sex steroids estradiol and testosterone. In addition, inhibin B, AMH, and insulin-like factor 3 may add useful information about the gonadal Sertoli and Leydig cell function, respectively. AMH is also used as a marker of ovarian reserve. This guideline sheds light on when and how to induce and monitor puberty, and maintenance of puberty by gonadal sex steroids namely testosterone or estradiol. To this end, important data and recommendations are also provided about the use of aromatase inhibitors and gonadotropin treatments. The expert panel recommends that pubertal induction or sex hormone replacement should be individualized but considered at 11 years in girls and 12 years in boys. Psychological aspects of puberty and fertility issues are especially important to address in individuals with sex development disorders or congenital pituitary deficiencies. The transition of these young adults highlights the importance of a multidisciplinary approach, discussing both medical issues and social and psychological issues that arise in the context of these chronic conditions.
The overall aim of treatment is to ensure secondary sexual characteristics and physical and neuropsychological maturation at a similar pace to peers, achieving somatic and psychological well-being, also in the longer perspective bone, cardiovascular, hematopoietic, sexual, and metabolic health.
Volume 19
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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