Frequency of hypoglycemia in children with adrenal insufficiency

1986 ◽  
Vol 113 (4_Suppl) ◽  
pp. S275-S278 ◽  
Author(s):  
E. Artavia-Loria ◽  
J.L. Chaussain ◽  
P.F. Bougnères ◽  
J.C. Job
Keyword(s):  
Plasma Concentration ◽  
Adrenal Insufficiency ◽  
Plasma Cortisol ◽  
Neonatal Period ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Primary Adrenal Insufficiency ◽  
Congenital Adrenal Hypoplasia ◽  
Basal Plasma ◽  
Adrenal Hypoplasia

Abstract The frequency of hypoglycemia in 165 children with primary adrenal insufficiency, 118 of whom had Congenital Adrenal Hyperplasia and 47 Addison's Disease, was 18 %. Half of the hypoglycemic episodes occurred in the neonatal period. Hypoglycemia was isolated in 13 children, revealing the disease in 4 newborns with Congenital Adrenal Hypoplasia and in a boy with 11 B Hydroxylase deficiency. Basal plasma cortisol levels were significantly lower in those of subjects who experienced hypoglycemia ( 47.1 ± 28.6 ng/ml vs. 106.0 ± 86.6 ng/ml, p< 0.001). A significant correlation ( p < 0.001) was found between the plasma concentration of glucose and cortisol at time of hypoglycemia.

scholarly journals Clinical polymorphism of congenital X-linked adrenal hypoplasia

2009 ◽  
Vol 55 (2) ◽  
pp. 15-18
Author(s):  
E M Orlova ◽  
M A Kareva
Keyword(s):  
Adrenal Insufficiency ◽  
Autosomal Recessive ◽  
Intrauterine Growth Retardation ◽  
Hypogonadotropic Hypogonadism ◽  
Primary Adrenal Insufficiency ◽  
Intrauterine Growth ◽  
Congenital Adrenal Hypoplasia ◽  
Genital Structure ◽  
Adrenal Hypoplasia ◽  
Autosomal Recessive Manner

Congenital adrenal hypoplasia is a rare clinical variant of primary adrenal insufficiency. Two forms of this disease are known, one of which is inherited in an autosomal recessive manner (including IMAGe syndrome - a combination of adrenal hypoplasia with intrauterine growth retardation, metaphysical dysplasia and abnormal genital structure, OMIM 300290), and the other has X-linked nature of inheritance (DAX-1 gene defect). X-linked adrenal hypoplasia is relatively more common and studied in more detail.Congenital X-linked adrenal hypoplasia is manifested by a combination of primary adrenal insufficiency and hypogonadotropic hypogonadism and is caused by defects in the DAX-1 gene (measurement-sensitive sex reversal, adrenal hypoplasia congenital, critical region on the X chromosome, gene-1).

ANDROGEN METABOLISM IN CONGENITAL ADRENAL HYPERPLASIA DUE TO 11 β-HYDROXYLASE DEFICIENCY

PEDIATRICS ◽  
1969 ◽  
Vol 44 (2) ◽  
pp. 201-208
Author(s):  
S. Douglas Frasier ◽  
Richard Horton ◽  
Robert A. Ulstrom
Keyword(s):  
Plasma Concentration ◽  
Urinary Excretion ◽  
Congenital Adrenal Hyperplasia ◽  
Conversion Ratio ◽  
Metabolic Clearance ◽  
Adrenal Hyperplasia ◽  
Metabolic Clearance Rate ◽  
Hydroxylase Deficiency ◽  
Glucocorticoid Administration

The plasma concentration of androstenedione and testosterone, metabolic clearance rate of androstenedione, and in vivo conversion ratio of androstenedione to testosterone have been studied in a normotensive 5-year-old female with congenital adrenal hyperplasia due to a deficiency of 11 β-hydroxylase. Prior to glucocorticoid administration, the urinary excretion of 17-ketosteroids varied from 2.2 to 4.9 mg/24 hours, urinary excretion of pregnanetriol varied from 0.7 to 2.2 mg/24 hours, and total 17-hydroxysteroid excretion varied from 1.2 to 7.5 mg/24 hours. Urinary tetrahydro-11-deoxy cortisol (TSH) was detected at a concentration of 550 µg/24 hours. The plasma concentration of androstenedione varied from 100 to 530 mµg/100 ml and the plasma concentration of testosterone varied from 40 to 90 mµg/100 ml. These values are significantly elevated when compared to those obtained in normal prepubertal females. Urinary steroid excretion and plasma androgen concentrations fell to normal in response to glucocorticoid administration. The metabolic clearance rate of androstenedione was 890 liters per day per M2 and the in vivo conversion ratio of androstenedione to testosterone was 11%. The calculated production rate of androstenedione was 4.7 mg per day per M2. Virilization in congenital adrenal hyperplasia due to 11 β-hydroxylase deficiency can be explained by an elevated plasma concentration of testosterone, which can be accounted for on the basis of conversion from androstenedione.

Adrenal hypoplasia congenita – an uncommon reason of primary adrenal insufficiency

2010 ◽  
Vol 71 (4) ◽  
pp. 309-313 ◽  
Author(s):  
M. Fichna ◽  
M. Żurawek ◽  
P. Gut ◽  
J. Sowiński ◽  
J. Nowak
Keyword(s):  
Adrenal Insufficiency ◽  
Primary Adrenal Insufficiency ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia

scholarly journals Bilateral adrenal myelolipomas presenting as acute adrenal insufficiency in an adult with congenital adrenal hyperplasia

2019 ◽  
Vol 12 (2) ◽  
pp. bcr-2018-226826 ◽  
Author(s):  
Sakolwan Suchartlikitwong ◽  
Rahul Jasti ◽  
Joaquin Lado-Abeal ◽  
Ana Marcella Rivas Mejia
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Insufficiency ◽  
Reproductive Organs ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Abdominal Ct ◽  
Acute Adrenal Insufficiency ◽  
Rare Tumours ◽  
21 Hydroxylase Deficiency ◽  
Stress Dose

Adrenal myelolipomas are relatively rare tumours composed of adipocytes and myeloid cells that arise in response to chronic adrenocorticotropic hormone stimulation. We present the case of bilateral adrenal myelolipomas in a 39-year-old man with untreated congenital adrenal hyperplasia (CAH) presenting with acute adrenal insufficiency and severe virilisation. Phenotypically, he is a man of short stature and has hyperpigmentation of the skin, gingiva and nail beds. Genital examination revealed micropenis and no palpable testes. Laboratory testing was consistent with primary adrenal insufficiency. An abdominal CT showed bilateral adrenal myelolipomas. An MRI of the pelvis revealed female reproductive organs. Chromosome study showed a karyotype of 46,XX. A CYP21A2 gene mutation confirmed diagnosis of CAH with 21-hydroxylase deficiency. The patient was treated with stress dose corticosteroids, subsequently tapered to physiological doses. We review previously reported cases and discussed diagnosis and treatment, including hormonal therapy and psychological approach.

scholarly journals Real-World Estimates of Adrenal Insufficiency–Related Adverse Events in Children With Congenital Adrenal Hyperplasia

2020 ◽  
Vol 106 (1) ◽  
pp. e192-e203
Author(s):  
Salma R Ali ◽  
Jillian Bryce ◽  
Houra Haghpanahan ◽  
James D Lewsey ◽  
Li En Tan ◽  
...  
Keyword(s):  
Adverse Events ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Insufficiency ◽  
Real World ◽  
Median Number ◽  
Adrenal Hyperplasia ◽  
Real World Data ◽  
Hydroxylase Deficiency ◽  
Middle Income ◽  
21 Hydroxylase Deficiency

Abstract Background Although congenital adrenal hyperplasia (CAH) is known to be associated with adrenal crises (AC), its association with patient- or clinician-reported sick day episodes (SDE) is less clear. Methods Data on children with classic 21-hydroxylase deficiency CAH from 34 centers in 18 countries, of which 7 were Low or Middle Income Countries (LMIC) and 11 were High Income (HIC), were collected from the International CAH Registry and analyzed to examine the clinical factors associated with SDE and AC. Results A total of 518 children—with a median of 11 children (range 1, 53) per center—had 5388 visits evaluated over a total of 2300 patient-years. The median number of AC and SDE per patient-year per center was 0 (0, 3) and 0.4 (0.0, 13.3), respectively. Of the 1544 SDE, an AC was reported in 62 (4%), with no fatalities. Infectious illness was the most frequent precipitating event, reported in 1105 (72%) and 29 (47%) of SDE and AC, respectively. On comparing cases from LMIC and HIC, the median SDE per patient-year was 0.75 (0, 13.3) vs 0.11 (0, 12.0) (P &lt; 0.001), respectively, and the median AC per patient-year was 0 (0, 2.2) vs 0 (0, 3.0) (P = 0.43), respectively. Conclusions The real-world data that are collected within the I-CAH Registry show wide variability in the reported occurrence of adrenal insufficiency–related adverse events. As these data become increasingly used as a clinical benchmark in CAH care, there is a need for further research to improve and standardize the definition of SDE.

STEROID EXCRETION PATTERNS IN URINE FROM TWO BOYS IN THE NEONATAL PERIOD WITH CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY

1972 ◽  
Vol 71 (2) ◽  
pp. 353-364 ◽  
Author(s):  
Jan-Åke Gustafsson ◽  
Sven Gustafsson ◽  
Patrick Olin
Keyword(s):  
Mass Spectrometry ◽  
Neonatal Period ◽  
Clinical Signs ◽  
Normal Subjects ◽  
Gas Chromatography Mass Spectrometry ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Steroid Excretion ◽  
21 Hydroxylase Deficiency ◽  
Adrenal Secretion

ABSTRACT Gas chromatography-mass spectrometry was used in a study of the excretion of steroids in urine in two normal boys one month of age and in two boys of the same age with clinical signs of 21-hydroxylase deficiency. A similar pattern of 3β-hydroxy-Δ5-steroids – including 3β,21-dihydroxy-5-pregnen-20-one and 5-pregnene-3β,20α,21-triol – was unexpectedly found in the mono- and disulphate fractions of urine from both the normal subjects and the patients. However, only the patients excreted saturated steroids in the urine indicating the adrenal secretion of progesterone and 17α-hydroxyprogesterone. The results indicate the presence in the adrenal cortex of at least two separate 21-hydroxylase systems, one active on pregnenolone and one on 17α-hydroxyprogesterone. Furthermore, the excretion of large amounts of saturated steroids in the urine of the patients indicates a high activity of adrenal 3β-hydroxy-Δ5-steroid oxidoreductase.

Etiology of primary adrenal insufficiency in children: a 29-year single-center experience

2019 ◽  
Vol 32 (6) ◽  
pp. 615-622 ◽  
Author(s):  
Melati Wijaya ◽  
Ma Huamei ◽  
Zhang Jun ◽  
Minlian Du ◽  
Yanhong Li ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Clinical Characteristics ◽  
Clinical Symptoms ◽  
Wide Spectrum ◽  
Adult Population ◽  
Adrenal Crisis ◽  
Hydroxylase Deficiency ◽  
Primary Adrenal Insufficiency ◽  
Genital Ambiguity ◽  
21 Hydroxylase Deficiency

Abstract Background Primary adrenal insufficiency (PAI) in children is a rare condition and potentially lethal. The clinical characteristics are non-specific. It may be manifested as a chronic condition or crisis. The etiologies of PAI in children are different from the adult population. Therefore, diagnostic investigation becomes challenging. Methods A retrospective study was conducted at The First Affiliated Sun Yat Sen University Pediatric Endocrine unit between September 1989 and July 2016. Results A total of 434 patients (237 males, 197 females) were identified as having PAI. Congenital adrenal hyperplasia (CAH) was the most frequent etiology (83.4%, n = 362, male:female = 174:188), of which 351 (97.2%) were 21-hydroxylase deficiency (21-OH) CAH. Non-CAH etiology accounted for 11.3% (n = 49, male:female = 47:2), of which 46 (93.9%) were of non-autoimmune. The etiologies of the 49 cases were adrenoleukodystrophy (ALD; n = 22), X-linked adrenal hypoplasia congenital (X-AHC; n = 20), autoimmune polyglandular syndrome (APS; n = 3), triple A syndrome (n = 2), steroidogenic factor 1 (SF-1) gene mutation (n = 1) and adrenalectomy (n = 1). The etiology was not identified for 23 patients (5.3%, male:female =16:7). Clinical symptoms were in accordance with the incidence of genital ambiguity (42.6%), digestive symptoms (vomiting and diarrhea) (35.5%), failure to thrive (26.5%), gonadal-associated symptom (premature puberty, sexual infantilism and amenorrhea) (21.2%), hyperpigmentation (9.7%), adrenal crisis (AC; 4.1%), neurological symptoms (3.2%), fatigue (2.5%) and prolonged jaundice (2.1%). Through physical examination, 58.5% were found to have hyperpigmentation. Conclusions This study spanned 29 years at our institution. The etiology of PAI in children was mostly of congenital forms, which exhibits a wide spectrum of clinical characteristics. For etiological diagnosis, chromosomal karyotyping is recommended for female phenotype patients.

Three cases of congenital adrenal hypoplasia: A cause of salt-wasting and mortality in the neonatal period

1991 ◽  
Vol 27 (2) ◽  
pp. 108-112 ◽  
Author(s):  
J. A. BATCH ◽  
J. MONTALTO ◽  
A. B. W. YONG ◽  
H. GOLD ◽  
P. GOSS ◽  
...  
Keyword(s):  
Neonatal Period ◽  
Salt Wasting ◽  
Congenital Adrenal Hypoplasia ◽  
Adrenal Hypoplasia
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