Pregnancies in patients with congenital adrenal hyperplasia with complete or almost complete impairment of 21-hydroxylase activity

Hoepffner, W; Schulze, Egbert; Bennek, J; Keller, E; Willgerodt, H

doi:10.1016/j.fertnstert.2003.10.024

Cited by 59 publications

(47 citation statements)

References 29 publications

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“…The first large study has shown that among 25 women with the SV form and adequate vaginal opening, the fertility rate was 60%, meanwhile among the 15 women with the SW form with adequate vaginal opening, the fertility rate was only 7% (26). However, more recent data suggest that fertility rates have significantly improved, largely owing to earlier treatment of CAH, improvement of compliance with therapy, and surgical advances in genital reconstruction leading to an increased percentage of patients with sexual activity (27,28). Moreover, a recent study has presented for the first time the pregnancy rate as the proportion of women who were actively trying to conceive and reported a near normal conception rate for women with classical CAH (29).…”

Section: Discussionmentioning

confidence: 99%

Influence of hormonal control on LH pulsatility and secretion in women with classical congenital adrenal hyperplasia

Bachelot

Chakhtoura

Plu‐Bureau

et al. 2012

European Journal of Endocrinology

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Objective: Women with classical congenital adrenal hyperplasia (CAH) exhibit reduced fertility due to several factors including anovulation. This has been attributed to a disturbed gonadotropic axis as in polycystic ovary syndrome (PCOS), but there is no precise evaluation. Our aim was to evaluate the gonadotropic axis and LH pulsatility patterns and to determine factor(s) that could account for the potential abnormality of LH pulsatility. Design: Case/control study. Methods: Sixteen CAH women (11 with the salt-wasting form and five with the simple virilizing form), aged from 18 to 40 years, and 16 age-matched women, with regular menstrual cycles (28G3 days), were included. LH pulse patterns over 6 h were determined in patients and controls. Results: No differences were observed between patients and controls in terms of mean LH levels, LH pulse amplitude, or LH frequency. In CAH patients, LH pulsatility patterns were heterogeneous, leading us to perform a clustering analysis of LH data, resulting in a two-cluster partition. Patients in cluster 1 had similar LH pulsatility patterns to the controls. Patients in cluster 2 had: lower LH pulse amplitude and frequency and presented menstrual cycle disturbances more frequently; higher 17-OH progesterone, testosterone, progesterone, and androstenedione levels; and lower FSH levels. Conclusions: LH pulsatility may be normal in CAH women well controlled by hormonal treatment. Undertreatment is responsible for hypogonadotropic hypogonadism, with low LH pulse levels and frequency, but not PCOS. Suppression of progesterone and androgen concentrations during the follicular phase of the menstrual cycle should be a major objective in these patients.

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Section: Discussionmentioning

confidence: 99%

Influence of hormonal control on LH pulsatility and secretion in women with classical congenital adrenal hyperplasia

Bachelot

Chakhtoura

Plu‐Bureau

et al. 2012

European Journal of Endocrinology

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“…The most widely recognized cause of low fertility rates in women with CAH is suboptimal disease control [88]. With adequate glucocorticoid and mineralocorticoid replacement, many sexually active women with CAH can become pregnant [89]. Even when the diagnosis of CAH is delayed and glucocorticoid replacement is not started until after age 9 years, chronic androgen exposure does not permanently or adversely affect fertility [90].…”

Section: Reproductive Outcome—womenmentioning

confidence: 99%

Growth and Reproductive Outcomes in Congenital Adrenal Hyperplasia

Nebesio

Eugster

2010

International Journal of Pediatric Endocrinology

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The treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is complex. In addition to disease control, important therapeutic goals are the maintenance of normal growth and the acquisition of normal reproductive function. Here, data regarding final adult height (FH) in patients with CAH will be reviewed. Additional difficulties associated with CAH, including risks of obesity and hypertension, will be discussed. Information about fertility and reproductive outcomes in men and women with CAH will also be summarized. Although the treatment of each child with CAH needs to be individualized, close medical followup and laboratory monitoring along with good compliance can often result in positive clinical outcomes.

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“…3 KAH tanılı hastaya ait bir raporda; biri basit virilizan ve diğer ikisi nonklasik KAH olan hastalardan 4 adet sağlıklı doğum gerçekleştiğini raporlamışlardır (11). Ayrıca 6 klasik KAH tanılı hastaya ait 9 gebeliğin takip edildiği bir raporda, 2 null mutasyona sahip hastadan birer, intron 2 splice mutasyona sahip bir hastadan iki adet ve diğer 3 basit virilizan özellikli adrenal hiperplazili hastadan ise 4 adet gebelik raporlanmıştır (12). Son olarak 62 KAH tanılı ve 62 sağlıklı kadının karşılaştırıldığı bir çalışmada en az bir gebeliği olan kadın sayısı KAH grubunda, kontrollere göre oldukça düşük bulunmuştur (16/41; p<0,001) (13).…”

Section: Discussionunclassified

Non-Klasik Konjenital Adrenal Hiperplazisi olan Hastada Gebelik: Vaka Sunumu

Akdeniz

Demirci

Ceydilek

et al. 2015

GMJ

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ÖZETKonjenital adrenal hiperplazi, steroid sentezi defekti ve hiperandrojenizmle seyreden bir klinik spektrumu ifade eder. Kortizol ve aldosteron sentezinin bozulması ve kaskadın androjen üretimine kayması kadınlarda infertilite ve virilizasyonla ilişkili klinik semptomlara neden olur. Sunacağımız vakada 41 yaşında, 21 hidroksilaz eksikliğine bağlı nonklasik konjenital adrenal hiperplazisi olan bir kadın hasta gebeliği boyunca takip edilmiş ve sağlıklı olarak doğumu gerçekleştirilmiştir. ABSTRACTCongenital adrenal hyperplasia is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. Dysregulation of corticotropin synthesis often leads to increased synthesis of adrenal androgens. Low fertility is often and troublesome condition in patients with congenital adrenal hyperplasia. In this report, we presented a case report which is a woman with non-classical hyperplasia who were pregnant and followed until delivery in our clinic. GİRİŞKonjenital adrenal hiperplazi (KAH), adrenal steroidogenez defekti ile seyreden, otozomal resesif geçişli bir genetik hastalıktır. Kortizol ve sıklıkla aldosteron sentezinin bozulmasına bağlı adrenokortikotropik hormon (ACTH) üzerindeki negatif inhibisyonun kalkması ve adrenal androjenlerin artmış üretimi ile sonuçlanır. Bu hastalıkta fenotip daha çok enzim eksikliğinin düzeyi ile belirlenir. Komplet 21 hidroksilaz eksikliği olan klasik tuz kaybettiren formda kadınlarda prenatal eksternal genitalyada virilizasyon ve her iki cinsiyette tuz kaybı ve aldosteron eksikliğine bağlı semptomlar görülür. Parsiyel 21 hidroksilaz eksikliğinde tuz kaybı genelde olmamakla beraber kadınlarda virilizan özellikler, erkeklerde androjen fazlalığı ile erken püberte gözlenebilir. Hafif enzim eksikliği ile prezante olan nonklasik formda genelde kadınlarda hiperandrojenizme bağlı hirsutism, akne, menstrüel bozukluklar ve düşük fertilite gözlenir (1).Nonklasik form da dahil olmak üzere konjenital adrenal hiperplazide azalmış fertilite bilinen bir klinik durumdur (2, 3). Androjen üretiminde artış, adrenal progesteron hipersekresyonu, sekonder polikistik over sendromu ve psikososyal faktörler bu hasta grubunda fertiliteyi olumsuz etkiler (4, 5).Vaka sunumumuzda nonklasik konjenital adrenal hiperplazi tanılı, gebeliği boyunca takip edilen ve doğum gerçekleştiren bir vakayı sunmak istiyoruz. OLGU SUNUMUKadın hastalıkları ve doğum polikliniğinde, 2005 yılında adet düzensizliği nedeniyle oral kontraseptif verilerek takip edilen hastanın yapılan tetkiklerinde 17-OH Progesteron 9,46 ng/mL (0,1-2,9), total testosteron 1,94 ng/mL (0,06-0,9) ve dehidroandreostenedion sülfat (DHEA-SO4) 494,50 µg/dL (60-407) gelmesi üzerine endokrinolojiye yönlendirilmiş. Burada yapılan 250 µg ACTH stimulasyon testinde 17-OH progesteron düzeyleri 0., 30., 60. dakikada sırasıyla 9,46, 36,4 ve 42,4 ng/mL bulunmuş. Genetik incelemede 21 hidroksilaz geni mutasyonlarından V281L mutasyonu homozigot mutant olarak saptanarak, nonklasik KAH tanısı konfirme edilmiş ve deksametazon 0,5 mg/gün başlanmış. Dokuz yıl boy...

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Pregnancies in patients with congenital adrenal hyperplasia with complete or almost complete impairment of 21-hydroxylase activity

Cited by 59 publications

References 29 publications

Influence of hormonal control on LH pulsatility and secretion in women with classical congenital adrenal hyperplasia

Influence of hormonal control on LH pulsatility and secretion in women with classical congenital adrenal hyperplasia

Growth and Reproductive Outcomes in Congenital Adrenal Hyperplasia

Non-Klasik Konjenital Adrenal Hiperplazisi olan Hastada Gebelik: Vaka Sunumu

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