ESPE2022 Poster Category 2 Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology (30 abstracts)
StAR gene mutation : description of puberty development and genital life from 6 patients 46,XX with classic Congenital Lipoid Adrenal Hyperplasia.
Isabelle Jardin-Millet 1 , Cyril Amouroux 2 , Marie-Noelle Dufourg 1,3 , Anne-Sophie Lambert 4 , Claire Bouvattier 4 , Fabienne Parada-Bonte 5 , Rachel Reynaud 6,7 , Estelle Demeinex 8 , Blandine Courbiere 9 , FrÉDÉRique Albarel 10 , IrÈNe Netchine 11,12 & Muriel Houang 11,12
1Service d’Explorations Fonctionnelles Endocriniennes, Hôpital Armand Trousseau-APHP-26 av Dr A Netter, 75571 PARIS, France; 2Pédiatrie spécialisée endocrinologie – diabétologie CHU de Montpellier Hôpital Arnaud de Villeneuve, 34295 Montpellier, France; 3Unité Inserm UMR –S 938 Système IGF, croissance fœtale et postnatale– Saint Antoine, PARIS, France; 4Service d’endocrinologie et diabétologie pédiatrique, CRMR Développement Génital, Hôpital Bicêtre, APHP Kremlin Bicêtre 78, rue du Général Leclerc, 94275, Le Kremlin-Bicêtre, France; 5Médecin généraliste, Montpellier, France; 6Service de pédiatrie multidisciplinaire CHU Timone Enfants, APHM, 13385 Marseille, France; 7Aix-Marseille Université, Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics (MMG), Faculté des Sciences médicales et paramédicales, Institut Marseille Maladies Rares (MarMaRa), Marseille, France; 8Centre Hospitalier Intercommunal de Fréjus / Saint Raphaë l. Centre Hospitalier Intercommunal de Fréjus / Saint Raphaël, 83608 Fréjus, France; 9Department of Gynecology, Obstetric and Reproductive Medicine, Gynepôle, AP-HM La Conception, 147 bd Baille, 13005 Marseille, France; 10Assistance Publique-Hôpitaux de Marseille (AP-HM), service d’endocrinologie, Hôpital de la Conception, Centre de Référence des Maladies Rares de l’hypophyse HYPO, 13005 Marseille, France; 11Service d’Explorations Fonctionnelles Endocriniennes, Hôpital Armand Trousseau-APHP-26 av Dr A Netter, 75571 Paris, France; 12Unité Inserm UMR –S 938 Système IGF, croissance fœtale et postnatale– Saint Antoine, Paris, France
Introduction: Congenital Lipoid Adrenal Hyperplasia (CLAH) is a severe deficiency of adrenal and gonadal steroidogenesis, caused by mutations in the StAR gene and the accumulation of cholesterol in the outer mitochondrial membrane due to steroidogenic acute regulatory protein (StAR) deficiency. Affected patients present peripheral adrenal insufficiency with early onset, and variable phenotypes at the age of puberty.
Objective of our study: To describe in 46,XX girls and women, the clinical and biological development of puberty, the occurrence of ovarian cysts, the fertility, as well as the mutations found and the circumstances of diagnosis of this pathology, in order to suggest hypotheses on the physiopathology and to propose an adapted management to each problems encountered.
Material and Methods: This observational, retrospective, national and multicenter study described the clinical, biological and imaging data of 46, XX patients aged at least 10 years old and presenting a classic form of CLAH.
Cases synthesis: Six patients 46,XX from 10 years and 8 months old to 41 years old, have been described. Three patients had spontaneous puberty, including one with spontaneous menarche. One patient had hormonal pubertal induction, the last two patients had not started puberty at 11 years and 10 years and 8 months. Five patients presented recurrent ovarian cysts, including two before puberty. One patient, who had a pubertal induction, had three children by In Vitro Fertilization. The six patients had different mutations in the StAR gene
Conclusion: StAR gene mutations in 46 XX patients are responsible for heterogeneous clinical presentations. This pathology must be diagnosed early, and patients should benefit from clinical, biological and ultrasound peri-pubertal monitoring. Hormone replacement therapy aimed at inducing or supporting puberty, regulating cycles and preventing ovarian cysts could be assessed on a case-by-case basis. Furthermore, fertility preservation could be offered to patients.
Keywords: steroidogenesis, StAR gene, lipoïd congenital adrenal hyperplasia, adrenal failure, puberty, ovarian cyst, fertility, medical assistance for the procreation,
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