The way toward adulthood for females with nonclassic congenital adrenal hyperplasia

Ntali, Georgia; Charisis, Sokratis; Kylafi, Christo F; Vogiatzi, Evangelia; Michala, Lina

doi:10.1007/s12020-021-02715-z

Cited by 3 publications

(3 citation statements)

References 114 publications

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“…DSDs are positive in any of these forms, while non-SW also includes a milder presentation which may be predominantly expressed as hirsutism and menstrual cycle anomalies [ 27 ]. Other authors consider that we should discuss of 3 distinct forms: SW, non-SW, and non-classical type as a different entity with pubertal onset especially in females [ 27 , 28 ]. Generally, 95% of cases diagnosed with paediatric adrenal insufficiency are caused by CAH, but 3βHSD2 deficiency has a modest epidemiological impact opposite to 21OH deficiency [ 29 ].…”

Section: Methodsmentioning

confidence: 99%

Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency

et al. 2022

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We aim to review data on 3beta-hydroxysteroid dehydrogenase type II (3βHSD2) deficiency. We identified 30 studies within the last decade on PubMed: 1 longitudinal study (N = 14), 2 cross-sectional studies, 1 retrospective study (N = 16), and 26 case reports (total: 98 individuals). Regarding geographic area: Algeria (N = 14), Turkey (N = 31), China (2 case reports), Morocco (2 sisters), Anatolia (6 cases), and Italy (N = 1). Patients’ age varied from first days of life to puberty; the oldest was of 34 y. Majority forms displayed were salt-wasting (SW); some associated disorders of sexual development (DSD) were attendant also—mostly 46,XY males and mild virilisation in some 46,XX females. SW pushed forward an early diagnosis due to severity of SW crisis. The clinical spectrum goes to: premature puberty (80%); 9 with testicular adrenal rest tumours (TARTs); one female with ovarian adrenal rest tumours (OARTs), and some cases with adrenal hyperplasia; cardio-metabolic complications, including iatrogenic Cushing’ syndrome. More incidental (unusual) associations include: 1 subject with Barter syndrome, 1 Addison’s disease, 2 subjects of Klinefelter syndrome (47,XXY/46,XX, respective 47,XXY). Neonatal screening for 21OHD was the scenario of detection in some cases; 17OHP might be elevated due to peripheral production (pitfall for misdiagnosis of 21OHD). An ACTH stimulation test was used in 2 studies. Liquid chromatography tandem–mass spectrometry unequivocally sustains the diagnostic by expressing high baseline 17OH-pregnenolone to cortisol ratio as well as 11-oxyandrogen levels. HSD3B2 gene sequencing was provided in 26 articles; around 20 mutations were described as “novel pathogenic mutation” (frameshift, missense or nonsense); many subjects had a consanguineous background. The current COVID-19 pandemic showed that CAH-associated chronic adrenal insufficiency is at higher risk. Non-adherence to hormonal replacement contributed to TARTs growth, thus making them surgery candidates. To our knowledge, this is the largest study on published cases strictly concerning 3βHSD2 deficiency according to our methodology. Adequate case management underlines the recent shift from evidence-based medicine to individualized (patient-oriented) medicine, this approach being particularly applicable in this exceptional and challenging disorder.

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Section: Methodsmentioning

confidence: 99%

Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency

et al. 2022

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“…On the other hand, the recommendation is to assign female sex to a child with 46, XX DSD due to CAH. 16 However, these children may prefer boys as playmates and exhibit aggressive behaviour. 17 The steroid dose needs to be balanced between adequate androgen suppression and drug toxicity.…”

Section: Gender Reassignment and Gender Dysphoriamentioning

confidence: 99%

Perspectives on early sex assignment and communication with parents in children with disorders of sexual development

et al. 2022

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Disorders of sexual development are a heterogeneous group of disorders in which chromosomal, gonadal or anatomical sex development is atypical. The majority of these children are recognized at birth by ambiguous genitalia. Legal and societal pressures require the physician and parents to assign sex rapidly. Though sex assignment is undebated in several disorders of sexual development, many others need an individualized approach to gender-related concerns. Gender dysphoria is prevalent in disorders of sexual development, and early gender-defining surgeries have potentially lifelong consequences. We use two cases, one of partial androgen insensitivity and another of simple virilizing congenital adrenal hyperplasia to illustrate that in disorders of sexual development, the ethical management principles remain the same at their core despite the vast differences in phenotypes. Sex assignment should maximize functional, psychological and sexual needs. Sex assigned should coincide with gender identity. We propose that we manage such children with the mutual participation of the physician, parents and the child. Though the parents and the physician have the child's best interests when making a decision, the child's developing autonomy should be protected. The communication of the health provider to the parent must be honest if early sex assignment is difficult.

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“…Glucocorticoids administered early in pregnancy may significantly increase pregnancy rate for IVF patients, though a similar beneficial effect on intra-cytoplasmic sperm injection (ICSI) is not evident (8, 9). Though high cortisol levels immediately post conception are associated with increased risk of miscarriage, and drugs that non-specifically block progesterone and glucocorticoid action are used to induce abortion (10), glucocorticoids are administered early in pregnancy to prevent female genital virilisation in patients with congenital adrenal hyperplasias (11).…”

Section: Introductionmentioning

confidence: 99%

Glucocorticoid involvement in reproductive biology

Mullins

Morley

Kenyon

et al. 2022

Preprint

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Oestrogen and progesterone play essential roles in the release of mature oocytes, the priming and cycling of the uterine lining, and the maintenance of mammalian pregnancy. Progesterone is synthesized de novo at the embryo implantation site in the mouse, during decidualization of the endometrium. During early stages of pregnancy, the locally produced progesterone is thought to act as an immunosuppressant, preventing rejection of the fetal allograft at the fetal-maternal interface. However, both uterine natural killer cells and dendritic cells express glucocorticoid receptor rather than progesterone receptor. The importance of glucocorticoids in early pregnancy is inferred from the presence of steroid receptors and the 11 beta-hydroxysteroid dehydrogenase enzymes, which modulate corticosterone action in the decidua, the trophoblast, the placenta, and the fetus. 11 beta-hydroxylase is the last enzyme in the metabolism of cholesterol to corticosterone and, in a mouse model of 11 beta-hydroxylase deficiency, complications of reproduction suggested its requirement for normal ovulation and uterine cell turnover. We present evidence that, in this model, folliculogenesis occurs normally but ovulation is inhibited, and abnormal uterine cell turnover ultimately leads to adenomyosis. Ovaries respond to a superovulation protocol by releasing oocytes and forming corpora lutea, and homozygous null blastocysts are capable of implantation, but the pregnancy is not maintained. We show that glucocorticoid is produced locally at the implantation site in control animals, revealing wide involvement of glucocorticoids in reproductive biology.

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The way toward adulthood for females with nonclassic congenital adrenal hyperplasia

Cited by 3 publications

References 114 publications

Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency

Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency

Perspectives on early sex assignment and communication with parents in children with disorders of sexual development

Glucocorticoid involvement in reproductive biology

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