Height augmentation in 11β-hydroxylase deficiency congenital adrenal hyperplasia

Nour, Munier; Pacaud, Danièle

doi:10.1186/s13633-015-0008-0

Cited by 12 publications

(6 citation statements)

References 15 publications

(18 reference statements)

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“…Three case reports with 11βOHD describe the use of growth hormone (GH), gonadotropin releasing hormone analog and glucocorticoid as combination treatment in young children with resultant improvement in final height and no reported adverse effects [190][191][192]. Another case report documented the use of the aromatase inhibitor letrozole in combination with GH in a 7-year-old 46XX male with significant improvement in final height [193].…”

Section: Growth Augmenting Therapiesmentioning

confidence: 97%

Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

2016

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Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is a rare autosomal recessive genetic disorder. It is caused by reduced or absent activity of 11β-hydroxylase (CYP11B1) enzyme and the resultant defects in adrenal steroidogenesis. The most common clinical features of 11 beta-hydroxylase deficiency are ambiguous genitalia, accelerated skeletal maturation and resultant short stature, peripheral precocious puberty and hyporeninemic hypokalemic hypertension. The biochemical diagnosis is based on raised serum 11-deoxycortisol and 11-deoxycorticosterone levels together with increased adrenal androgens. More than 100 mutations in CYP11B1 gene have been reported to date. The level of in-vivo activity of CYP11B1 relates to the degree of severity of 11 beta-hydroxylase deficiency. Clinical management of 11 beta-hydroxylase deficiency can pose a challenge to maintain adequate glucocorticoid dosing to suppress adrenal androgen excess while avoiding glucocorticoid-induced side effects. The long-term outcomes of clinical and surgical management are not well studied. This review article aims to collate the current available data about 11 beta-hydroxylase deficiency and its management.

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Section: Growth Augmenting Therapiesmentioning

confidence: 97%

Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

2016

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“…Dolayısıyla erken tanı ve tedavi hayat kurtarmaktadır (3,8). Ülkemizde KAH ile ilgili fizik muayene bulguları ve klinik şüphe dışında tarama yöntemi yoktur.…”

Section: Discussionunclassified

“…En sık görülen tip %90-95 sıklık ile 21-Hidroksilaz eksikliği olup steroid biyosentezinde yer alan 17-hidroksiprogesteronun 11-deoksikortizole dönüşümündeki bozukluk ile ilişkilidir. Bu dönüşümdeki bozukluk temel olarak CYP21A2 genindeki mutasyonlara bağlı olarak gelişmektedir (1)(2)(3)(4).…”

Section: Introductionunclassified

The Evaluation of Newborns with Scrotal Hyperpigmentation

Selen¹,

Buluş²,

Kışlal³

2017

Turkish J Pediatr Dis

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ÖZAmaç: Konjenital adrenal hiperplazi (KAH) adrenal kortekste kortizol sentezinde rol oynayan beş enzimden birinin eksikliğine bağlı gelişen, otozomal resesif kalıtılan bir hastalık grubudur. KAH olgularının % 90'ından fazlasını 21-hidroksilaz enzim eksikliği oluşturmaktadır. KAH uygun tanı yöntemleri bulunan, kolay ve ucuz tedavisi olan bir hastalıktır. Erken tanı mortalite ve morbiditeyi azaltmak için önem taşımaktadır. Diğer yandan; erkek bebeklerde hekimi uyaracak kuşkulu genital yapı bulunmadığı için KAH tanısında gecikmeler olmakta ve bu bebeklere ancak ciddi adrenal yetmezlik gelişti-ğinde tanı konulabilmektedir. Bu nedenle pek çok ülkede 21-hidroksilaz eksikliğinde artan bir ara metabolit olan 17-OHP düzeyine topuk kanından bakılarak hastalık yenidoğan döneminde taranmaktadır. Ülkemizde KAH taraması yapılma-maktadır. Çalışmamızın amacı, skrotal hiperpigmentasyon saptanan asemptomatik erkek yenidoğanlarda KAH sıklığının belirlenmesi, erken tanı ve tedavinin öneminin vurgulanmasıdır. Gereç ve ABSTRACTObjective: Congenital adrenal hyperplasia (CAH) is a group of disorders with autosomal recessive inheritance, caused by a deficiency of one of five enzymes needed for cortisol biosynthesis in adrenal cortex. %90 of CAH patients have deficiency of the 21-hydroxylase enzyme. Treatment of CAH is inexpensive and easy with an early diagnosis. Early diagnosis is very important for salt-wasting CAH to prevent mortality and morbidity. On the other hand, the diagnosis can be confusing in the male sex due to the lack of physical examination findings and severe acute adrenal crisis may develop. Many countries use a CAH screening program based on 17-OHP levels from heel-stick blood samples on filter paper is applied. However, there is no screening program for CAH in Turkey. In this study, we aimed to diagnose nonsymptomatic male CAH patients with scrotal hyperpigmentation to emphasize early diagnosis and treatment.Material and Methods: 82 male newborns where scrotal hyperpigmentation had been detected at the Keçiören Research and Educational Hospital Neonatology Clinic were included in the study. Gestational week, birth weight, maternal age, postnatal day, physical examination and laboratory findings were recorded.Results: Three of the 82 newborns with scrotal hyperpigmentation (3.65%) were diagnosed with CAH. Two of them were diagnosed with salt wasting CAH and the other with simple virilizing CAH. Conclusion:On physical examination, scrotal hyperpigmentation is important for early diagnosis of CAH in the male sex. Newborns with scrotal hyperpigmentation should be examined more carefully regarding CAH.

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“…10 The only other reported case using this approach in 11β-hydroxylase deficiency was a patient with a 46, XX karyotype, who was raised as male. This patient had an oophorectomy after presentation at the age of 3 years in Pakistan with virilization and cryptorchidism 3 and similarly had received suboptimal initial corticosteroid treatment. After presenting in Canada at the age of 7 years with an advanced bone age and hypertension, the patient was given corticosteroids, which were optimized before commencing GH and letrozole at 8 and 9 years of age, respectively.…”

Section: Discussionmentioning

confidence: 99%

Growth Hormone With Aromatase Inhibitor May Improve Height in CYP11B1 Congenital Adrenal Hyperplasia

et al. 2017

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With an estimated prevalence of 1 in 100 000 births, 11β-hydroxylase deficiency is the second most common form of congenital adrenal hyperplasia (CAH) and is caused by mutations in CYP11B1. Clinical features include virilization, early gonadotropin-independent precocious puberty, hypertension, and reduced stature. The current mainstay of management is with glucocorticoids to replace deficient steroids and to minimize adrenal sex hormone overproduction, thus preventing virilization and optimizing growth. We report a patient with CAH who had been suboptimally treated and presented to us at 6 years of age with precocious puberty, hypertension, tall stature, advanced bone age, and a predicted final height of 150 cm. Hormonal profiles and genetic analysis confirmed a diagnosis of 11β-hydroxylase deficiency. In addition to glucocorticoid replacement, the patient was commenced on growth hormone and a third-generation aromatase inhibitor, anastrozole, in an attempt to optimize his growth. After the initiation of this treatment, the patient’s growth rate improved significantly and bone age advancement slowed. The patient reached a final height of 177.5 cm (0.81 SD score), 11.5 cm above his mid-parental height. This patient is only the second reported case of the use of an aromatase inhibitor in combination with growth hormone to optimize height in 11β-hydroxylase-deficient CAH. This novel treatment proved to be highly efficacious, with no adverse effects. It may therefore provide a promising option to promote growth in exceptional circumstances in individuals with 11β-hydroxylase deficiency presenting late with advanced skeletal maturation and consequent short stature.

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Height augmentation in 11β-hydroxylase deficiency congenital adrenal hyperplasia

Cited by 12 publications

References 15 publications

Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

The Evaluation of Newborns with Scrotal Hyperpigmentation

Growth Hormone With Aromatase Inhibitor May Improve Height in CYP11B1 Congenital Adrenal Hyperplasia

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