seek out their peers and join groups similar to or unlike them. This ambivalence makes it hard for diabetics to find their place. Stigmatized as being different from others, they become a symbolic carrier of the risk of rejection. “If I am different, no one is going to love me any more.” For them it is often a case of hiding their illness and treatment so as not to feel excluded. Their self-respect is damaged although they do not shun a friend with an illness. Being different from others returns them to solitude until they find support, such as from another diabetic adolescent. This encounter, while maintaining their individuality, enables them not to be unique and therefore not to be alone.
Conclusion
Subject to the metamorphoses of puberty, the child becomes an adolescent at the cost of major psychological upheaval. In this way they reach adulthood. For some adolescents, having a chronic illness simultaneously mobilizes their psychological energy. In the quest for independence, these adolescents, whether consciously or not, keep the limitations of the treatment and the relationship with their doctor at a distance to help fulfil their dreams and to get closer to their ego ideal – an additional pretext, since everything is kept at a distance. In understanding the adolescent psychological dynamic, care givers can lead the child in a health care project. They have the means to identify their physical, cognitive, and emotional abilities, and to offer them reassuring support to help them to take care of themselves, in other words, to give them as many resources as possible to, in adulthood, accept social reality and its laws, relationship challenges, the reality of diabetes, and the restrictions of the treatment with the best emotional balance. In some ways, psychologists embody another “transition” between doctors and parents, making it possible to inhibit certain psychological conflicts and support the young adolescents in their efforts at subjectification with the help of support or therapeutic work.
References
1Gueniche K: Psychopathologie de l’enfant (Child Psychopathology). Paris, Colin, 2016.
2Marcelli D: Observance bien tempérée, entre la soumission et la révolte (Well-tempered observance, between submission and revolt). Entretiens de Bichat 1997, Observance Thérapeutique et Relation de Soin à l’adolescence, Paris, 1997, pp 6–9.
3Jeammet P: L’adolescence (Adolescence). Paris, Solar, 2002.
4Malivoir S: Adolescence et diabète (Adolescence and diabetes). Revue Soins, 2005, p 694.
Sabine Malivoir, Psychologist PhD
Hôpitaux Robert Debré et Pitié-Salpétrière
Ecole des Psychologues Praticiens
Rue du Montparnasse
FR–75006 Paris (France)
Karinne Gueniche, Psychologist PhD
Service Endocrinologie, Gynécologie et Diabétologie Pédiatrique
Hôpital Necker Enfants Malades
149, rue de Sèvres
FR–75015 Paris (France)
E-Mail [email protected]
Specific Illnesses
Polak M, Touraine P (eds): Transition of Care: From Childhood to Adulthood in Endocrinology, Gynecology, and Diabetes. Endocr Dev. Basel, Karger, 2018, vol 33, pp 17–33 (DOI: 10.1159/000487523)
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Transition of Care from Childhood to Adulthood: Congenital Adrenal Hyperplasia
Anne Bachelot
Centre de Référence des Pathologies Gynécologiques Rares, ICAN, Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Department of Endocrinology and Reproductive Medicine, AP–HP, IE3M, Hôpital Pitié-Salpêtrière, Paris, France
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Abstract
Deficiency of the 21-hydroxylase enzyme is the most common form of congenital adrenal hyperplasia (CAH), accounting for more than 95% of the cases. With the advent of newborn screening and hormone replacement therapy, most children with CAH survive into adulthood. Adolescents and adults with CAH experience a number of complications, including short stature, obesity, infertility, impaired bone mineral density, and reduced quality of life. Transition from pediatric to adult care and management of long-term complications are challenging for both patients and practitioners. In adulthood, the aims of the medical treatment are to substitute cortisol and, when necessary, aldosterone deficiency, to ensure normal fertility, and to avoid the long-term consequences of glucocorticoid use on bone, metabolism, and cardiovascular risk. Recent data suggest that poor health status is likely to begin in adolescence and persist into adulthood, highlighting the importance of this time period in a patient’s endocrine care. During transition from pediatric to adult specific care, a shift in treatment goals is thus needed. Successful transition from pediatric to adult health care requires a regular follow-up of patients by a multidisciplinary team including pediatric endocrinologists, urologists, gynecologists, psychiatrists, and adult endocrinologists. All of this could be included in a specific therapeutic education program regarding transition and/or CAH.
© 2018 S. Karger AG, Basel
Congenital adrenal hyperplasia (CAH, MIM 201910) corresponds to a group of inherited autosomal recessive disorders that arise from defective steroidogenesis and result from a deficiency in one or several of the enzymes of cortisol biosynthesis. Deficiency of the 21-hydroxylase enzyme is the most common form of CAH, accounting for more than 95% of the cases (Fig. 1) [1]. The impaired glucocorticoid (GC) feedback inhibition via the classic negative feedback loop leads to increased secretion of adrenocorticotropic hormone (ACTH) and to subsequent adrenal hyperplasia and increased production of adrenal androgens and steroid precursors prior to the enzymatic defect (Fig. 1) [1]. CAH due to 21-hydroxylase deficiency (21-OHD) is the result of deletions or deleterious mutations in the CYP21A2 gene [1]. There are many mutations of the CYP21A2 gene identified so far, which cause varying degrees of impairment of 21-hydroxylase activity, with a good genotype/phenotype correlation [1–3]. Most patients are compound heterozygotes. The clinical phenotype, related to the less severe mutated allele, is classified as classic for the severe form, or nonclassic for the mild form. Classic CAH has an estimated prevalence of 1 in 15,000 births and encompasses in 75% the salt-wasting (SW) form and in 25% the simple virilizing (SV) form, depending on the degree of aldosterone deficiency
