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Open research questions in Sexual Differentiation and Disorders

123 gap statements mined from Sexual Differentiation and Disorders papers in our 4.5M-paper local library, which holds 777 papers on the topic — drawn mostly from each paper's own stated research gap, future-work, challenge and limitation notes, and its abstract. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one.

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What the literature leaves open

  • There is a lack of comprehensive epidemiological data on classic CAH in Hangzhou.

    Incidence and epidemiological characteristics of congenital adrenal hyperplasia in Hangzhou newborns, China (2014–2024): a population-based cross-sectional study · 2026 · DOI

  • The study was significantly underpowered (11.5%) to detect small-to-medium interaction effects. Individual differences accounted for 57% of the variance in handgrip asymmetry, making it challenging to detect significant effects. The complexity of strength imbalances and the need for adequately powered research pose a challenge.

    Handgrip Strength Asymmetry in Female Basketball Players: The Critical Role of Arm Position and the Challenge of Statistical Power · 2025 · DOI

  • The study had to deal with the complexity of the topic, including the lack of consensus on the indications, timings, procedures, or evaluation of the outcomes of genital surgery. The study had to navigate the differences of opinion between groups of respondents, including healthcare professionals and peer support groups.

    Psychosocial Support for Parents, Infants, Children, and Adolescents with Variations of Sex Characteristics: Results from a Pan-European Survey · 2024 · DOI

  • Combined oral contraceptive(s) (OC) containing ethinylestradiol and progestin modulate ovarian and adrenal steroidogenesis, but their specific impact on 21OHD has not been systematically evaluated.

    Biochemical control in young women with congenital adrenal hyperplasia taking oral contraceptives: a prospective observational study · 2026 · DOI

  • Modified-release hydrocortisone (MR-HC; Efmody®) provides a superior pharmacokinetic profile, but its efficacy in NCCAH remains insufficiently characterized.

    OC9.6 - ECE_2087 - Modified-release hydrocortisone rapidly normalizes reproductive hormone regulation in women with non-classic congenital adrenal hyperplasia · 2026 · DOI

  • Whilst we cannot predict long-term consequences of these temporal gene expression shifts during fetal life, we demonstrated perturbed gene expression during development that warrants further investigation.

    OC4.5 - ECE_2984 - Early pregnancy maternal progesterone supplementation alters fetal frontal cortex gene expression in male fetuses · 2026 · DOI

  • However, the underlying molecular mechanisms causing these problems are not fully understood.

    Steroid 21-hydroxylase deficiency dysregulates essential molecular pathways of metabolism and energy provision · 2025 · DOI

  • While cognitive deficits have been documented in Klinefelter syndrome, the influence of hormonal variability on cognitive profiles remains underexplored.

    Higher testosterone level is associated with improved cognitive functions in Klinefelter syndrome · 2025 · DOI

  • A major limitation of newborn screening (NBS) for congenital adrenal hyperplasia (CAH) is the lack of specificity of the fluoroimmunoassay (FIA) currently used for 17-hydroxyprogesterone (17OHP) determination.

    Advances in congenital adrenal hyperplasia newborn screening: 11-ketotestosterone and 21-deoxycortisone as additional discriminatory biomarkers · 2025 · DOI

  • This study aims to enlarge the limited knowledge on long-term gonadal function and gonadal pathology in these conditions.

    Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency · 2025 · DOI

  • Six of twenty ovotestis did not meet our criterion for the diagnosis of ovotestis lacking the histologic evidence of both testicular and ovarian tissue (lacking ovarian follicles).

    Is it possible to separate the testicular and ovarian components of an ovotestis? · 2025 · DOI

  • The clinical implications of leaving gonadal tissue inconsistent with the patient's gender identity remains unknown.

    Is it possible to separate the testicular and ovarian components of an ovotestis? · 2025 · DOI

  • Our 2 manuscripts highlight 3 major gaps of knowledge in the field: (1) the absence of contemporary “healthy” pediatric cohorts that may serve as control groups for CGM-based studies; (2) the lack of consensus on reporting CGM outcomes in this field.

    Glucose pattern in children with classical congenital adrenal hyperplasia: evidence from continuous glucose monitoring · 2024 · DOI

  • There is a lack of reports on true hermaphroditism in goats in Peru. The study highlights the need for accurate diagnosis of DSD in animals.

    First Report of True Hermaphroditism in a Goat in Peru · 2026 · DOI

  • The study is a systematic review and does not present new data. The literature survey is limited to the current state of knowledge on congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

    Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency epidemiology, etiopathogenesis, clinical presentation, treatment – a systematic review · 2026 · DOI

  • There is a need for a comprehensive review of the current literature on congenital adrenal hyperplasia due to 21-hydroxylase deficiency. There is a need for a multidisciplinary diagnostic and therapeutic approach for the management of the disorder.

    Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency epidemiology, etiopathogenesis, clinical presentation, treatment – a systematic review · 2026 · DOI

  • Future research should focus on developing effective diagnostic tools for CAIS. Future research should investigate the long-term outcomes of patients with CAIS.

    Complete androgen insensitivity syndrome as a condition requiring interdisciplinary care – A case report · 2026 · DOI

  • There is a need for early diagnosis and holistic care for patients with CAIS. There is a lack of awareness about CAIS among clinicians and patients.

    Complete androgen insensitivity syndrome as a condition requiring interdisciplinary care – A case report · 2026 · DOI

  • There is a lack of awareness about the risks of early-onset osteoporosis in adult Turner syndrome. Lifelong bone monitoring is not always prioritized in adult Turner syndrome.

    EARLY-ONSET OSTEOPOROSIS IN ADULT TURNER SYNDROME: IMPORTANCE OF LIFELONG BONE MONITORING · 2026 · DOI

  • Effects of increased prenatal exposure to progesterone on fetal brain development are poorly understood.

    OC4.5 - ECE_2984 - Early pregnancy maternal progesterone supplementation alters fetal frontal cortex gene expression in male fetuses · 2026 · DOI

  • Prenatal androgens have been hypothesized to contribute to these sex differences but the available evidence is inconclusive.

    Enduring prenatal androgen effects on the female brain · 2025 · DOI

  • Limited data on age at diagnosis and presenting symptoms for clinically diagnosed cases, - Newborn screening algorithms may have lower sensitivity for simple virilizing forms, - The study only followed patients until 3 years…

    Incidence and epidemiological characteristics of congenital adrenal hyperplasia in Hangzhou newborns, China (2014–2024): a population-based cross-sectional study · 2026 · DOI

  • Further research on non-surgical care pathways for children is needed, - Investigation into the role of psychologists in non-surgical care…

    Psychosocial Support for Parents, Infants, Children, and Adolescents with Variations of Sex Characteristics: Results from a Pan-European Survey · 2024 · DOI

  • The variant has not been reported in major databases or the literature and is extremely rare in gnomAD…

    P3 - ECE_1584 - A novel homozygous mutation of CYP17A1 gene in a 20-year old 46, XY phenotypical male with hypergonadotropic hypogonadism and gynecomastia · 2026 · DOI

  • The rarity of Van Wyk-Grumbach syndrome makes it a challenging condition to diagnose and treat. The complexity of the hormonal axes involved in the syndrome makes it difficult to understand the underlying pathophysiology.

    Clinical puzzle of endocrine disorders in Van Wyk-Grumbach syndrome: A case report · 2026 · DOI

Most-cited papers in Sexual Differentiation and Disorders

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Open questions raised by papers listed on this page include: (1) There is a lack of comprehensive epidemiological data on classic CAH in Hangzhou (“Incidence and epidemiological characteristics of congenital adrenal hyperplasia…”, 2026); (2) Combined oral contraceptive(s) (OC) containing ethinylestradiol and progestin modulate ovarian and adrenal steroidogenesis, but their specific impact on 21OHD has not been systematically evaluated (“Biochemical control in young women with congenital adrenal hyperplasia taking…”, 2026); (3) Modified-release hydrocortisone (MR-HC; Efmody®) provides a superior pharmacokinetic profile, but its efficacy in NCCAH remains insufficiently characterized (“OC9.6 - ECE_2087 - Modified-release hydrocortisone rapidly normalizes…”, 2026); (4) There is a lack of reports on true hermaphroditism in goats in Peru (“First Report of True Hermaphroditism in a Goat in Peru”, 2026); (5) There is a need for a comprehensive review of the current literature on congenital adrenal hyperplasia due to 21-hydroxylase deficiency (“Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency…”, 2026). 123 gap statements have been mined from Sexual Differentiation and Disorders papers in our 4.5M-paper local library, which holds 777 papers on the topic; the gaps come from whichever of those papers state one. They are mostly the research gaps the authors state and the papers' abstracts, plus future-work, limitations and challenges passages. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one, so you can read the original claim in context.

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