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 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.

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.

Federal clinical practice guidelines on the management of the patients presenting with congenital adrenal hyperplasia

2014 ◽  
Vol 60 (2) ◽  
pp. 42-50 ◽  
Author(s):  
M A Kareva ◽  
I S Chugunov
Keyword(s):  
Clinical Practice ◽  
Congenital Adrenal Hyperplasia ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Neonatal Screening ◽  
Genetic Diagnosis ◽  
Hormonal Treatment ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

Clinical practice guidelines on Congenital Adrenal Hyperplasia (CAH) give a brief review of epidemiology, etiology and pathogenesis of all disease causative steroidogenic defects. Recommendations on neonatal screening and management of early-diagnosed CAH due 21-hydroxylase deficiency were given in details. We also included the algorithm for the hormonal treatment and management of the patients of different age. Prenatal and preimplantation genetic diagnosis of 21-hydroxylase deficiency has been also discussed.

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.

Biochemical and genetic diagnosis of 21-hydroxylase deficiency

Endocrine ◽  
2015 ◽  
Vol 50 (2) ◽  
pp. 306-314 ◽  
Author(s):  
Henrik Falhammar ◽  
Anna Wedell ◽  
Anna Nordenström
Keyword(s):  
Genetic Diagnosis ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency
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