scholarly journals The ACTH test in the diagnosis of hirsutism

1997 ◽  
Vol 115 (2) ◽  
pp. 1403-1405 ◽  
Author(s):  
Marco Fábio Prata Lima ◽  
Márcia Gaspar Nunes ◽  
Cláudio Emilio Bonduki ◽  
Mauro Abi Haidar ◽  
Geraldo Rodrigues Lima ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Insufficiency ◽  
Late Onset ◽  
Acth Test ◽  
Adrenal Hyperplasia ◽  
Historical Aspects

The ACTH test has been used to confirm the diagnosis of adrenal insufficiency and the classic and the non-classic adrenal hyperplasia due to the 3-HSD, 21 OH e 110H deficiencies. This article reviews the historical aspects of the use of ACTH in the diagnosis of hirsutism and points out its mains indications. In spite of new biological molecular advances in the diagnosis of adrenal enzymatic deficiencies, the use of the ACTH test can help the physician to predict both genothipus and fenothipus in populations with hyperandrogenic manifestations due to non-classical or late-onset congenital adrenal hyperplasia.

Late-onset congenital adrenal hyperplasia: a treatable cause of anxiety

1999 ◽  
Vol 46 (6) ◽  
pp. 856-859 ◽  
Author(s):  
Alan R Jacobs ◽  
Phyllis B Edelheit ◽  
Anton E Coleman ◽  
Andrew G Herzog
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Late Onset ◽  
Adrenal Hyperplasia

scholarly journals The Prevalence of Late Onset Congenital Adrenal Hyperplasia in Hirsute Women from Central Anatolia

2003 ◽  
Vol 50 (6) ◽  
pp. 815-823 ◽  
Author(s):  
Nuri KAMEL ◽  
Vedia TONYUKUK ◽  
Rifat EMRAL ◽  
Demet ÇORAPÇIOGLU ◽  
Mehmet BASTEMIR ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Late Onset ◽  
Central Anatolia ◽  
Adrenal Hyperplasia

scholarly journals Late-onset Congenital Adrenal Hyperplasia with Cushing Syndrome

2014 ◽  
Vol 53 (17) ◽  
pp. 1955-1959 ◽  
Author(s):  
Gurbuz Erdogan ◽  
Recai Pabuccu ◽  
Sibel Ertek ◽  
Shoshana Israel ◽  
Banu Yilmaz ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Cushing Syndrome ◽  
Late Onset ◽  
Adrenal Hyperplasia

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 < 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.

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