IMPE2023 Poster Presentations Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology (19 abstracts)
3B-hydroxysteroid dehydrogenase 2 (3BHSD2) deficiency 6 cases review
María Celeste Mattone 1,2 , Mariana Costanzo 1 , María Victoria Lobo de la Vega 1,3 , Yamila Evelyn Paulon 4 , Gabriela Patricia Rojas 5 , Eva Marcela Lescano 6 , Jorge Zappa 7 , Yamile Mocarbel 8 , María Sonia Baquedano 2 , Natalia Perez Garrido 1 , Roxana Marino 1 , Pablo Ramirez 1 , Alicia Belgorosky 2,1 , Marta Ciaccio 1 & Gabriela Guercio 1,2
1Servicio de Endocrinología, Hospital de Pediatría Prof. Dr. J. P. Garrahan, Buenos Aires, Argentina. 2Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina. 3Servicio de Endocrinología, Hospital del Niño Jesús, San Miguel de Tucumán, Argentina. 4Servicio de Endocrinología, Hospital Ceres, Ceres, Argentina. 5Servicio de Endocrinología, Hospital Prof. A. Posadas, Buenos Aires, Argentina. 6CePSI Eva Perón, Santiago del Estero, Argentina. 7Servicioo de Endocrinología, Hospital Pediátrico Juan Pablo II, Corriente, Argentina. 8Servicio de Endocrinología, Hospital de Clínicas Universidad de Buenos Aires, Buenos Aires, Argentina
Introduction: 3BHSD2 enzyme is crucial for adrenal and gonad steroid biosynthesis. In recessive loss-of-function HSD3B2 mutations, steroid flux is altered leading to a rare form of congenital adrenal hyperplasia (CAH) that compromise genital development in both, 46,XX and 46,XY individuals.
Aim: To report the clinical and biochemical findings and the follow-up of patients with CAH secondary to 3BHSD2 deficiency confirmed by molecular studies.
Methods: Six CAH patients (46,XY, n=5; and 46,XX, n=1) secondary to 3BHSD2 deficiency were retrospectively evaluated at a tertiary care unit. The variables analyzed in the study are depicted in the table.
| Patient | P1 | P2 | P3 | P4 | P5 | P6 | |
| Age | 1.5 m | 7 m | 1.1 y | 3 days | 9.2 y | 7 m | |
| Karyotype | 46,XY | 46,XY | 46,XY | 46,XY | 46,XY | 46,XX | |
| External genitalia at birth | Atypical | Atypical | Atypical | Atypical | Atypical | Female | |
| CAH-NS# | + | + | + | NA | Normal | Normal | |
| Salt wasting | + | + | + | Compensated | Compensated | ||
| Postnatal phenotype | Pseudo-precoucious puberty from 5 y | Postnatal pubarche and clitoromegaly | |||||
| TARTs | + | +a | + | ||||
| Puberty | - | - | - | Spontaneus | Spontaneus | Early spontaneous | |
| DHEAS (ng/ml) | 1390b | >1000 | 12140 | 16000 a | 4000 | 18980 | |
| 17OHP (ng/ml) | 16.2 | 227 | 17.6 | 11.15 | 8.03 | 141.4 | |
| ACTH (pg/ml) | 148 | NA2 | >1250 | 70 | 553 | 2885.3 | |
| Cortisol (mg/dl) | 12 | 13 | 5.6 | 4.8 | |||
| PRA (ngr/ml/h) | >28.5 | NA | >31 | NA | 11.82* | 423.9 | |
| Electrolytes (Na/K - mEq/l) | 129/5.3 | 118/6.4 | 125/4.6 | 135/4.9 | 137/4.25 | 135/5 | |
| Molecular variant HSD3B2 gene NM-000198.4 (NP_000189.1) | p.[(Leu108Trp)];[(Val228Met)] | p.(Arg249Ter)(;)(Arg249Ter) | p.(Arg249Ter)(;)(Arg249Ter) | p.(Val228Met)(;)(Val228Met) | p.(Val228Met)(;)(Val228Met) | p.[(Gly250Val)];[(Gly250Val)] | |
| Treatment: Glucocorticoid | + | + | + | + | + | ||
| Mineralocorticoid | + | + | + | + | + | ||
| # CAH-NS: newborn screening for congenital adrenal hyperplasia secondary to 21 OHD. a Patient lost to follow-up. Diagnosis and tests results in adulthood. b Under glucocorticoid treatment. *Compensated salt wasting but hypotension and high rennin prompted mineralocorticoid addition. | |||||||
Conclusion: The spectrum of clinical and biochemical manifestations associated with mutations in HSD3B2 is complex and variable. Detailed steroid profile is useful in the identification of these patients and in the differential diagnosis of other forms of CAH non-21 OHD. However, molecular confirmation is mandatory. In 46,XY DSD with pathological CAH-NS a steroid enzymatic deficiency other than 21-hidroxilase should be suspected. The underrepresentation of 46,XX patients in this autosomal recessive disorder may be explained by the milder genital phenotype that could delay diagnosis and/or lead to unrecognized infant death. 3BHSD2 deficiency is, therefore, an infrequent but important form of CAH that should be actively considered in the differential diagnosis for timely identification and management.
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