scholarly journals Nonclassic congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency

2004 ◽  
Vol 132 (suppl. 1) ◽  
pp. 106-108
Author(s):  
Maja Jesic ◽  
Milos Jesic ◽  
Silvija Sajic ◽  
Svjetlana Maglajlic ◽  
Svetislav Necic ◽  
...  
Keyword(s):  
Late Onset ◽  
Hydroxylase Deficiency ◽  
Bone Maturation ◽  
Hormone Synthesis ◽  
Constant Control ◽  
Mild Deficiency ◽  
One Year ◽  
21 Hydroxylase Deficiency ◽  
Accelerated Bone Maturation ◽  
Premature Pubarche

Nonclassic CAH, also termed as late onset of CAH, is a very mild form of 21-hydroxylase deficiency. The incidence of disease is estimated at 0.1% of population. Nonclassic CAH is usually diagnosed in the childhood before the age of 6 to 8 years as premature pubarche. The disease is not common in the infants and usually not before 6 to 8 months. This is a case report of 7-month female infant who was suspected of mild hyperandrogenism because of premature pubarche. The diagnosis was confirmed by mild basal elevation of 17-OHP (5.55 ng/ml) and characteristic hyper-response to ACTH, reaching values of 21 ng/ml, as well as accelerated bone maturation. The conventional treatment of NCAH was initiated, with glucocorticoid therapy (hydrocortisone) for one year and a half. After that period, our decision was to discontinue the hormonal therapy because of the impression that hyperandrogenism was mild (mild deficiency of the enzymes for steroid hormone synthesis). Child?s growth, development and maturation are under constant control.

scholarly journals One-year clinical evaluation of single morning dose prednisolone therapy for 21-hydroxylase deficiency

2004 ◽  
Vol 48 (5) ◽  
pp. 705-712 ◽  
Author(s):  
Milena C. F. Caldato ◽  
Vânia T. Fernandes ◽  
Claudio E. Kater
Keyword(s):  
Oral Dose ◽  
Hormonal Control ◽  
The Other ◽  
Morning Dose ◽  
Hydroxylase Deficiency ◽  
Bone Maturation ◽  
Clinical Control ◽  
One Year ◽  
21 Hydroxylase Deficiency ◽  
Synthetic Glucocorticoids

Replacement schedules with hydrocortisone (HC) to treat 21OHD are generally unsatisfactory and partially successful regarding growth. Noncompliance is common since its short half-life requires TID administration. Even multiple daily HC doses do not reproduce cortisol chronobiology and may disturb hypothalamic-mediated rhythms. Because synthetic glucocorticoids could improve clinical control, we evaluated the possible benefits of a one-year treatment period with a single morning oral dose of prednisolone (PD) phosphate in 44 patients with 21OHD randomized to two sex and age-matched groups: one (n=23) receiving PD (2.4-3.5mg/m² BSA) and the other (n=21) TID HC (10-15mg/m² BSA). After one year, bone maturation ratio was kept stable in the PD group (from 1.20 to 1.14), whereas a slight increase was seen in the HC group (from 1.21 to 1.29). Growth velocity (SDS) was preserved in the PD group (from 1.2 to 1.2 in all; 0.79 to1.13 in pre-pubertals), whereas a slight increase occurred in the pre-pubertal HC-treated patients (from 1.1 to 1.9); height SDS for BA increased significantly in the PD group. Thus, patients with 21OHD treated for one year with a single morning dose of PD appear to achieve a better clinical and hormonal control than those on TID HC, permitting a reduction of the replacement dose. The current PD schedule used by our group (1.5-3mg/m² BSA/day) suggests a higher HC:PD bioequivalence ratio of 6-8:1.

Role of Body Weight in the Onset and the Progression of Idiopathic Premature Pubarche

2020 ◽  
pp. 1-10
Author(s):  
Paolo Cavarzere ◽  
Margherita Mauro ◽  
Rossella Gaudino ◽  
Rocco Micciolo ◽  
Giorgio Piacentini ◽  
...  
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Late Onset ◽  
Hydroxylase Deficiency ◽  
Predisposing Factor ◽  
Strict Adherence ◽  
Premature Adrenarche ◽  
21 Hydroxylase Deficiency ◽  
Premature Pubarche

<b><i>Background:</i></b> The term premature pubarche (PP) refers to the appearance of pubic hair before age 8 in girls and before age 9 in boys. Although idiopathic PP (often associated with premature adrenarche) is considered an extreme variation from the norm, it may be an initial sign of persistent hyperandrogenism. Factors contributing to PP onset and progression have not been identified to date. <b><i>Aims:</i></b> The objectives of this study are to describe a group of Italian children with PP, to identify potential factors for its onset, and to define its clinical and biochemical progression. <b><i>Methods:</i></b> We retrospectively enrolled all infants born between 2001 and 2014 with PP. Children with advanced bone age (BA) underwent functional tests to determine the cause of PP. Hormonal analysis and BA determination were performed annually during a 4-year follow-up period. <b><i>Results:</i></b> A total of 334 children with PP were identified: idiopathic PP (92.5%, associated with premature adrenarche in some cases); related to precocious puberty (6.6%); late-onset 21-hydroxylase deficiency (0.9%). Low birth weight was associated with premature adrenal activation. Body mass index (BMI) was the only factor that influenced the progression of BA during follow-up. <b><i>Conclusions:</i></b> Low birth weight is a predisposing factor for premature adrenal activation. The increase in BMI in patients with idiopathic PP during the 4-years of follow-up was responsible for BA acceleration. We recommend prevention of excessive weight gain in children with PP and strict adherence to follow-up in order to prevent serious metabolic consequences.

scholarly journals Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Heves Kırmızıbekmez ◽  
Rahime Gül Yesiltepe Mutlu ◽  
Serdar Moralıoğlu ◽  
Ahmet Tellioğlu ◽  
Ayşenur Cerrah Celayir
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Growth Retardation ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Salt Wasting ◽  
Significant Regression ◽  
One Year ◽  
The One ◽  
21 Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) is a group of inherited defects of cortisol biosynthesis. A case of classical CAH due to 21-hydroxylase deficiency (21-OHD) with early onset of salt waste and concurrence of meningomyelocele (MMC) was presented here. The management of salt-wasting crisis which is complicated by a postrenal dysfunction due to neurogenic bladder was described. Possible reasons of growth retardation in the one-year follow-up period were discussed. A significant regression of the phallus with proper medical treatment was also mentioned.

Autopsy and genetic diagnosis of 21-hydroxylase deficiency with bilateral testicular tumors in a case under no medication for over one year

2011 ◽  
Vol 206 (1-3) ◽  
pp. e71-e75 ◽  
Author(s):  
Hajime Mizukami ◽  
Akihiko Hamamatsu ◽  
Shinjiro Mori ◽  
Shuichi Hara ◽  
Masahiko Kuroda ◽  
...  
Keyword(s):  
Genetic Diagnosis ◽  
Hydroxylase Deficiency ◽  
Testicular Tumors ◽  
One Year ◽  
21 Hydroxylase Deficiency

scholarly journals Late onset 21-hydroxylase deficiency presenting as pre-pubertal gynaecomastia

1984 ◽  
Vol 18 (11) ◽  
pp. 1226-1226
Author(s):  
I Auchterlonie ◽  
J Cameron ◽  
B Rudd ◽  
A Wallace ◽  
P Smail
Keyword(s):  
Late Onset ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

Growth curves for congenital adrenal hyperplasia from a national retrospective cohort

2016 ◽  
Vol 29 (12) ◽  
Author(s):  
Patricia Bretones ◽  
Benjamin Riche ◽  
Emmanuel Pichot ◽  
Michel David ◽  
Pascal Roy ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adult Height ◽  
Bone Age ◽  
Strong Impact ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Bone Maturation ◽  
The Mean ◽  
Puberty Onset ◽  
21 Hydroxylase Deficiency

Abstract Background: In congenital adrenal hyperplasia (CAH), adjusting hydrocortisone dose during childhood avoids reduced adult height. However, there are currently no CAH-specific charts to monitor growth during treatment. Our objective was to elaborate growth reference charts and bone maturation data for CAH patients. Methods: We conducted a retrospective observational cohort study, in 34 French CAH centers. Patients were 496 children born 1970–1991 with genetically proven 21-hydroxylase deficiency. Their growth and bone maturation data were collected until age 18 together with adult height, puberty onset, parental height, and treatment. The mean (SD) heights were modeled from birth to adulthood. The median±1 SD and ±2 SDs model-generated curves were compared with the French references. A linear model for bone maturation and a logistic regression model for the probability of short adult height were built. Results: Growth charts were built by sex for salt wasting (SW) and simple virilizing (SV) children treated before 1 year of age. In girls and boys, growth was close to that of the general French population up to puberty onset. There was almost no pubertal spurt and the mean adult height was shorter than that of the general population in girls (−1.2 SD, 156.7 cm) and boys (−1.0 SD, 168.8 cm). Advanced bone age at 8 years had a strong impact on the risk of short adult height (OR: 4.5 per year advance). Conclusions: The 8-year bone age is a strong predictor of adult height. It will help monitoring the growth of CAH-affected children.

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