Two rare forms of congenital adrenal hyperplasia, 11β hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations

Bulsari, Krupali; Maple-Brown, Louise; Falhammar, Henrik

doi:10.1007/s42000-018-0006-8

Cited by 8 publications

(4 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…46, XX individuals with classical CAH are born with a variable degree of external genital ambiguity owing to exposure of excess androgens prenatally (Nordenskjold et al, 2008;Almasri et al, 2018), and is one of the most common causes of ambiguous genitals in 46, XX. In addition, some of the rarer CAH variants, such as 11β-hydroxylase deficiency (46, XX), 3β-hydroxysteroid dehydrogenase type 2 deficiency (46, XY), P450 oxidoreductase deficiency (both genders), and lipoid adrenal hyperplasia or SCC enzyme deficiency, can result in atypical genitalia (El-Maouche et al, 2017;Bulsari et al, 2018;Al Alawi et al, 2019). To restore typical genital appearance and function in those most severely affected by CAH and reared as girls, the standard of care has been early genital reconstructive surgery (Almasri et al, 2018).…”

Section: Introductionmentioning

confidence: 99%

Sexual Orientation in Individuals With Congenital Adrenal Hyperplasia: A Systematic Review

Daae¹,

Feragen²,

Wæhre³

et al. 2020

Front. Behav. Neurosci.

Self Cite

View full text Add to dashboard Cite

Congenital adrenal hyperplasia (CAH) is a genetic condition of the steroidogenic enzymes in the adrenal cortex normally leading to variable degrees of cortisol and aldosterone deficiency as well as androgen excess. Exposure to androgens prenatally might lead to ambiguous genitalia. The fetal brain develops in traditional male direction through a direct action of androgens on the developing nerve cells, or in the traditional female direction in the absence of androgens. This may indicate that sexual development, including sexual orientation, are programmed into our brain structures prenatally. The objective of this study was to perform a systematic review of the literature, investigating sexual orientation in individuals with CAH. The study also aimed at identifying which measures are used to define sexual orientation across studies. The review is based on articles identified through a comprehensive search of the OVIDMedline, PsycINFO, CINAHL, and Web of Science databases published up to May 2019. All peer-reviewed articles investigating sexual orientation in people with CAH were included. Quantitative, qualitative, and mixed methods were considered, as well as self-, parent-, and third-party reports, and no age or language restrictions were enforced on publications. The present review included 30 studies investigating sexual orientation in patients with CAH assigned female at birth (46, XX) (n = 927) or assigned male at birth (46, XY and 46, XX) (n = 274). Results indicate that assigned females at birth (46, XX) with CAH had a greater likelihood to not have an exclusively heterosexual orientation than females from the general population, whereas no assigned males at birth (46, XY or 46, XX) with CAH identified themselves as non-heterosexual. There was a wide diversity in measures used and a preference for unvalidated and self-constructed interviews. Hence, the results need to be interpreted with caution. Methodological weaknesses might have led to non-heterosexual orientation being overestimated or underestimated. The methodological challenges identified by this review should be further investigated in future studies.

show abstract

Section: Introductionmentioning

confidence: 99%

Sexual Orientation in Individuals With Congenital Adrenal Hyperplasia: A Systematic Review

Daae¹,

Feragen²,

Wæhre³

et al. 2020

Front. Behav. Neurosci.

Self Cite

View full text Add to dashboard Cite

show abstract

“…In contrast to 11β-hydroxylase deficiency, which only affects the adrenal steroidogenesis, 3β-hydroxy-steroid dehydrogenase type 2 deficiency reduce both adrenal and gonadal steroidogenesis (7,8). Occasional males and females with 11β-hydroxylase deficiency have been able to have children of their own (101,102). Only one male with 3β-hydroxy-steroid dehydrogenase type 2 deficiency has been reported to father children but there was no genetic testing to confirm his paternity (103).…”

Section: Gonadal Dysfunction and Paternity In Rare Cah Variantsmentioning

confidence: 99%

“…Since 17α-hydroxylase/17,20-lyase deficiency usually presents as a sexually infantile adolescent phenotypic female (either 46,XX or 46,XY) sex steroid replacement is necessary according to the sex of rearing (104). Although patients with 17α-hydroxylase/17,20-lyase deficiency are normally considered infertile a few cases of successful pregnancies after fertility treatment (frozen embryo transfer (FET)) have been reported (105,102,106). The majority of patients with P450 oxidoreductase deficiency have atypical genitalia (6).…”

Section: Gonadal Dysfunction and Paternity In Rare Cah Variantsmentioning

confidence: 99%

“…One woman with lipoid CAH has after fertility treatment (clomiphene stimulation) been able to have two successful pregnancies (109). It should be noted that even though gonadal dysfunction seems to be present in almost all cases and paternity infrequent in rare CAH variants, normal gonadal function and fertility have occurred in sporadic cases (102,103). In milder NC form of rare CAH variants, some of these patients may not have been diagnosed, the gonadal function and fertility is more unclear (95).…”

Section: Gonadal Dysfunction and Paternity In Rare Cah Variantsmentioning

confidence: 99%

See 1 more Smart Citation

MANAGEMENT OF ENDOCRINE DISEASE: Gonadal dysfunction in congenital adrenal hyperplasia

Grinten

Stikkelbroeck

Falhammar

et al. 2021

European Journal of Endocrinology

Self Cite

View full text Add to dashboard Cite

Gonadal dysfunction is an adverse outcome in patients with congenital adrenal hyperplasia (CAH), which may become apparent already during puberty. Clinical consequences of gonadal dysfunction include menstrual disturbances in females and hypogonadism and impaired fertility in males and females. In males, gonadal dysfunction can be caused by primary gonadal failure due to testicular adrenal rest tumours (TART), and by secondary gonadal failure due to poor hormonal control. In females, gonadal dysfunction can result from an overproduction of adrenal androgens including 11-oxygenated C-19 androgens and progestins, and rarely from ovarian adrenal rest tumours. In all patients with CAH, optimal hormonal control is the key for adequate gonadal function. Therefore, regular measurements of adrenal steroids and/or their metabolites should be performed. In addition, markers of the hypothalamus-pituitary-gonadal axis need to be assessed. In females, the regularity of the menstrual cycle should be evaluated. In males, regular evaluation for TART using ultrasonography is recommended from the start of puberty or even earlier when poor hormonal control is present. When TART is present, counselling on cryopreservation of semen should be offered.

show abstract

Non-classical 11β-hydroxylase deficiency caused by a novel heterozygous mutation: a case report and review of the literature

Tang,

Xu,

Xuan

et al. 2024

Endocrine

View full text Add to dashboard Cite

Two rare forms of congenital adrenal hyperplasia, 11β hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations

Cited by 8 publications

References 31 publications

Sexual Orientation in Individuals With Congenital Adrenal Hyperplasia: A Systematic Review

Sexual Orientation in Individuals With Congenital Adrenal Hyperplasia: A Systematic Review

MANAGEMENT OF ENDOCRINE DISEASE: Gonadal dysfunction in congenital adrenal hyperplasia

Non-classical 11β-hydroxylase deficiency caused by a novel heterozygous mutation: a case report and review of the literature

Contact Info

Product

Resources

About