Congenital Adrenal Hyperplasia With Hypogonadism in a Man: 3β-Hydroxysteroid Dehydrogenase Deficiency vs. Lipoid Hyperplasia?
https://doi.org/10.15605/jafes.041.S1
- Author:
Marisa Masera Marzukie
1
;
Quan Hziung Lim
1
;
Shireene Ratna Vethakkan
1
;
Jeyakantha Ratnasingam
1
Author Information
1. Universiti Malaya Medical Centre
- Publication Type:Journal Article
- MeSH:
Pheochromocytoma;
Mutation
- From:
Journal of the ASEAN Federation of Endocrine Societies
2026;41(S1):27-
- CountryPhilippines
- Language:English
-
Abstract:
Introduction:3β-Hydroxysteroid dehydrogenase (3β-HSD) deficiency
and lipoid congenital adrenal hyperplasia (CAH) are
rare disorders of steroidogenesis that result in impaired
synthesis of all adrenal and gonadal hormones. Affected
males typically present with ambiguous genitalia
and concurrent mineralocorticoid and glucocorticoid
deficiency. Distinguishing between these two conditions is
crucial, as their management strategies differ.
Case:We report a 24-year-old male, born to non-consanguineous
parents, who was clinically diagnosed with 3β-HSD deficiency during infancy. He presented at day 40 of life with
ambiguous genitalia, bilateral undescended testes, and
generalized hyperpigmentation. His family history was
significant for an elder brother with salt-losing CAH.
Initial biochemical evaluation confirmed primary adrenal
insufficiency and primary hypogonadism. Notably, his
steroid precursors, dehydroepiandrosterone sulfate
(DHEAS) and 17-hydroxyprogesterone, were suppressed.
A karyotype confirmed 46,XY. In the absence of genetic
testing at that time, a clinical diagnosis of 3β-HSD deficiency
was made, and he was commenced on mineralocorticoid
and supraphysiological glucocorticoid replacement. He
underwent bilateral orchidopexy and hypospadias repair
in childhood. Pubertal induction was required, followed by
maintenance testosterone therapy. Upon transitioning to
adult care, a review of his biochemical profile, particularly
suppressed DHEAS, which is inconsistent with 3β-HSD
deficiency, raised the suspicion of a more proximal defect,
such as lipoid CAH. Differentiation is imperative, as lipoid
CAH requires only physiological glucocorticoid replacement, whereas 3β-HSD deficiency often needs higher doses
to suppress adrenocorticotropic hormone and DHEAS.
To resolve this diagnostic uncertainty and guide longterm therapy, the patient was referred for genetic studies.
Conclusion:Differentiating 3β-HSD deficiency from lipoid CAH is
important, as both have similar clinical presentation. The
absence of elevated steroid precursors, particularly DHEAS,
should raise suspicion of a more proximal defect. Given
the different aims of glucocorticoid therapy, establishing
a precise diagnosis through genetic studies is essential to
guide clinical management and minimize the morbidity
associated with supraphysiological corticosteroid dosing.
- Full text:2026072813533937186EP_A016.pdf
