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Cited by 5Sexual Differentiation and DisordersAdrenal Hormones and DisordersOvarian function and disorders

Phenotypic variation of 46,XX late identified congenital adrenal hyperplasia among Indonesians

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Center for Biomedical Research (CEBIOR), Faculty of Medicine Diponegoro University, Semarang, Indonesia, Juniarto, Achmad Zulfa, Ulfah, Maria, Ariani, Mahayu Dewi, Utari, Agustina, Faradz, Sultana MH·2018·Journal of the ASEAN Federation of Endocrine Societies
DOI 10.15605/jafes.033.01.02PMC PMC7784163
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Abstract

OBJECTIVES: To describe the phenotype variation in Indonesian 46,XX late-identified congenital adrenal hyperplasia (CAH) and the correlation between 17-hydroxyprogesterone (17-OHP) and genital virilization. METHODOLOGY: Retrospective study of 39 cases with five salt-wasting (SW) and 34 simple virilizing (SV) types. RESULTS: The median age of the patients was 9.83 years (range, 0.58 to 44 years) with Prader score 2 to 5. Clitoromegaly (100%) and skin hyperpigmentation (87%) were the most common features. Lack of breast development (Tanner 1 to 2) and menstrual disorders occurred in 9 patients (teenagers and adults). Short stature (6), low voice (14), prominent Adam's apple (9) and hirsutism (4) were found only in SV types. Rapid growth (7) and precocious puberty (8) were identified in children. Male gender on admission was found in 13 patients. The mean of 17-OHP level was 304.23 nmol/L [standard deviation (SD) 125.03 nmol/L]. There was no correlation between 17-OHP levels and virilization (r=0.19, p>0.05). CONCLUSION: Late-identified CAH showed severe virilization and irreversible sequelae, with clitoromegaly and skin hyperpigmentation as the most commonly seen features. Masculinization of CAH females created uncertainty with regard to sex assignment at birth, resulting in female, male and undecided genders. There is no significant correlation between 17-OHP levels with the degree of virilization in CAH females.

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  • Approximately 20-30% of adult patients with CAH have adrenal masses.

    “Approximately 20-30% of adult patients with CAH have adrenal masses (726).”

    From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [726]

    The Results (Clinical findings; page unavailable) describe nine adults among 39 patients and report features such as clitoromegaly, skin hyperpigmentation, and short stature, but give no prevalence of adrenal masses. Searches for “adrenal masses 20-30%” and related tumor and imaging terms found no passage addressing the claim. (LLM, conf=0.76)

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  • Almost a quarter of adrenal masses in CAH are benign adrenal myelolipomas, which generally occur in patients with a history of poor hormonal control, suggesting that persistent ACTH stimulation may play a role in pathogenesis.

    “Almost a quarter of these are benign adrenal myelolipomas, which generally occur in patients with a history of poor hormonal control, suggesting that persistent ACTH stimulation may play a role in pathogenesis (628,726,727).”

    From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [726]

    The Introduction and Results discuss CAH diagnosis, treatment, virilization, and 17-OHP levels, but do not address adrenal masses or myelolipomas. Searches of our copy for myelolipomas, the ‘almost a quarter’ proportion, poor hormonal control, and ACTH stimulation found no passage supporting the attributed claim. No page numbers are available in the indexed passages. (LLM, conf=0.76)

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Research works printed but not linked: 19

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Cited by

Sorted by citations

Authors
Center for Biomedical Research (CEBIOR), F. O. M. D. U., Juniarto, A. Z., Ulfah, M., Ariani, M. D., Utari, A., & Faradz, S. M.
Affiliations
Diponegoro University (ID)
Corresponding author
Faradz, Sultana MH
ORCID
Venue
Journal of the ASEAN Federation of Endocrine Societies
Publisher
Journal of the ASEAN Federation of Endocrine Societies (JAFES)
Published
2018-03-12
Volume
33
Issue
1
Pages
6-11
ISSN
  • 0857-1074 (ISSN-L)
  • 2308-118X
DOI
10.15605/jafes.033.01.02
PMC
PMC7784163
OpenAlex
W2792038370
Cited by
5
References
2
Citations by year
2026: 1 · 2024: 1 · 2023: 1 · 2022: 1 · 2021: 1
FWCI
0.09
Type
journal article
Language
en
Open access
Licence
cc-by-nc
Locations
  • Journal of the ASEAN Federation of Endocrine Societies (publishedVersion, cc-by-nc)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
  • PubMed Central (publishedVersion, cc-by-nc)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
  • Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
Keywords
congenital adrenal hyperplasia, delayed diagnosis, phenotypic variability, 17-hydroxyprogesterone, clitoromegaly, hyperpigmentation, sex assigned at birth, precocious puberty, Indonesian patients

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