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Purpose <p>In 3β-Hydroxysteroid dehydrogenase type-2 (3β-HSD2) deficiency, the gonadal phenotypic spectrum and its correlation with genotype are unclear. We describe our center’s experience and perform a systematic review.</p> Methods <p>Retrospective record review of five 3β-HSD2 deficiency probands from our center, along with per-patient data analysis of reported probands, was conducted to understand the genotype and gonadal phenotype correlation. Probands were subgrouped based on karyotype and residual enzyme activity (REA) of the genetic variant.</p> Results <p>Of 128 probands, subgroups were: 46,XY REA ≤ 2% (<i>n</i> = 66), &gt; 2% (<i>n</i> = 21); 46,XX REA ≤ 2% (<i>n</i> = 29), &gt; 2% (<i>n</i> = 12). All 46,XY probands had atypical genitalia; Sinnecker score ≤ 3 (93.1% vs. 88.2%) and cryptorchidism (13.7% vs. 23.5%) were similar between REA ≤ 2% and &gt; 2% groups. 46,XY probands with pubertal data (REA ≤ 2%: 11, &gt; 2%: 3) all had spontaneous puberty (gynecomastia: 3; early puberty: 2) with normal testosterone and gonadotropins (except two). Testicular adrenal rest tumors (TARTs) were reported in seven (median age 13 years); some retained spermatogenesis, and one case documented paternity. No testicular germ-cell tumors were reported. 46,XX probands with pubertal data (REA ≤ 2%: 12, &gt; 2%: 4), all had spontaneous puberty except one (pubertal arrest). Median ages at thelarche (9.0 vs. 9.5 years) and menarche (12 vs. 11.5 years) were comparable between REA groups. Polycystic ovarian morphology (PCOM) was reported in seven, and infertility in one.</p> Conclusion <p>No clear genotype–gonadal phenotype correlation was observed. Pubertal development and hormone secretion are largely preserved irrespective of REA. TARTs and PCOM are not uncommon. Fertility potential requires further studies.</p>

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3β-Hydroxysteroid dehydrogenase type-2 deficiency: Our experience and gonadal function-focused systematic review

  • 期刊论文

  • 发表日期：

    2026年4月1日

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  • Aaditya Daga,
  • Aditya Phadte,
  • Manjiri Karlekar,
  • Vijaya Sarathi,
  • Anurag Ranjan Lila,
  • Samiksha Hegishte,
  • Saba Samad Memon,
  • Rohit Barnabas,
  • Nalini Shah,
  • Shriraam Mahadevan,
  • Tushar Bandgar

摘要

Purpose

In 3β-Hydroxysteroid dehydrogenase type-2 (3β-HSD2) deficiency, the gonadal phenotypic spectrum and its correlation with genotype are unclear. We describe our center’s experience and perform a systematic review.

Methods

Retrospective record review of five 3β-HSD2 deficiency probands from our center, along with per-patient data analysis of reported probands, was conducted to understand the genotype and gonadal phenotype correlation. Probands were subgrouped based on karyotype and residual enzyme activity (REA) of the genetic variant.

Results

Of 128 probands, subgroups were: 46,XY REA ≤ 2% (n = 66), > 2% (n = 21); 46,XX REA ≤ 2% (n = 29), > 2% (n = 12). All 46,XY probands had atypical genitalia; Sinnecker score ≤ 3 (93.1% vs. 88.2%) and cryptorchidism (13.7% vs. 23.5%) were similar between REA ≤ 2% and > 2% groups. 46,XY probands with pubertal data (REA ≤ 2%: 11, > 2%: 3) all had spontaneous puberty (gynecomastia: 3; early puberty: 2) with normal testosterone and gonadotropins (except two). Testicular adrenal rest tumors (TARTs) were reported in seven (median age 13 years); some retained spermatogenesis, and one case documented paternity. No testicular germ-cell tumors were reported. 46,XX probands with pubertal data (REA ≤ 2%: 12, > 2%: 4), all had spontaneous puberty except one (pubertal arrest). Median ages at thelarche (9.0 vs. 9.5 years) and menarche (12 vs. 11.5 years) were comparable between REA groups. Polycystic ovarian morphology (PCOM) was reported in seven, and infertility in one.

Conclusion

No clear genotype–gonadal phenotype correlation was observed. Pubertal development and hormone secretion are largely preserved irrespective of REA. TARTs and PCOM are not uncommon. Fertility potential requires further studies.