Open research questions in Sexual Differentiation and Disorders
79 unresolved questions extracted from the limitations and future-work sections of 456 Sexual Differentiation and Disorders papers in our library. Each links back to the study that raised it.
What the literature leaves open
There is a lack of studies comparing the external genitalia of 5α-reductase deficiency cases with those of non-5α-reductase deficiency cases. There is a need for more accurate diagnostic criteria for 5α-reductase deficiency.
Future studies should aim to replicate the findings of this study in larger and more diverse populations. Future studies should aim to develop more accurate diagnostic criteria for 5α-reductase deficiency. Future studies should aim to investigate the long-term outcomes of patients with 5α-reductase deficiency.
Further studies on the cause of septo-optic dysplasia are needed. Investigations into the relationship between septo-optic dysplasia and other endocrine disorders may be warranted.
The long-term effects of chemotherapy on gonadal function in patients with advanced Hodgkin's disease are unknown. The mechanisms of gonadal damage caused by chemotherapy are not fully understood.
The lack of a standard classification system for Mullerian anomalies. The need for a system that provides clarity and uniformity in reporting reproductive performance and treatment results.
The paper identifies a gap in the understanding of androgyny, particularly in terms of its theoretical and empirical definitions. It highlights the need to refine the notion of androgyny and its bearing on psychotherapy.
The study may have missed some short children who were not measured. The sample size may be limited. The study only screened children in three Scottish cities.
The prevalence of severe GHD may be higher than previously reported. There may be a gap in the diagnosis and treatment of GHD.
There is a great deal of disagreement on what constitutes a conversion reaction. There is a wide range of incidence reports, from extremely rare to extremely common.
There is a lack of understanding of the effects of prenatal androgenization on human behavior. Prior studies have focused on animal models, with limited generalizability to humans.
Fetal androgens in the early treated adrenogenital syndrome of 46 XX hermaphroditism: Influence on assertive and aggressive types of behavior · 1976 · DOIFurther studies can investigate the relationship between socioeconomic class and attitudes toward semen loss. Future research can explore the effectiveness of public health campaigns to raise awareness about the physiological nature of nocturnal emissions.
The mechanisms of anovulation in hyperprolactinaemia are not fully understood. The role of oestrogen feedback in the regulation of gonadotrophin release in women with hyperprolactinaemia is unclear.
The paper identifies a gap in understanding the experiences of women in Taiwan under Kuomintang rule. It highlights the need to explore the variations on the feminine mystique among middle-class women.
There is a lack of long-term studies on the treatment of galactorrhoea and hypogonadism with bromocriptine. The effects of bromocriptine on fertility are not well understood.
The study is limited to a series of cases with the VATER association. The sample size is relatively small, with 10 cases studied. The study does not report on the long-term outcomes of affected individuals.
Future research should aim to improve understanding of the full spectrum of malformations associated with the VATER association. Future studies should investigate the long-term outcomes of affected individuals. Future research should seek to identify the genetic and environmental factors that contribute to the development of the VATER association.
The lack of understanding of how hormone abnormalities affect cognitive abilities in children. The need for a study that examines the cognitive abilities of children with hormone abnormalities.
The authors identify a gap in the understanding of heterosis and its effects. The study aims to address the remarks of Mr. Tinsman on the authors' previous work.
There is a lack of understanding about the psychological consequences of congenital absence of the vagina. Prior work has not fully explored the patient's experiences and struggles with the defect.
The study only reports one family with a probable sex-linked recessive form of mental retardation. The sample size is small, with only one propositus and a limited number of family members examined.
Recessive Sex-Linked Mental Retardation in the Absence of Other Recognizable Abnormalities · 1969 · DOIThe wives' need to defend against anger may be a factor in their depressive symptoms. The unique marital situation and its effects on the wives. The prolonged separations from husbands.
The paper identifies a gap in the understanding of the psychological effects of prolonged separations on submariners' wives. The author notes that the prior study by Baker, Fagan et al. found that only one of 65 wives reported significant impairment after the departure of their husbands.
The lack of understanding of the developmental line of genital self-stimulation. The limited research on the development of infantile sexuality in early childhood.
The possibility of an artifact in the results should be carefully considered. The sample size is limited to 25 individuals with Turner's syndrome. Examiner bias may be a concern since the author tested all but one of the subjects.
The cognitive deficits associated with Turner's syndrome are not well understood. There is a need for further research on the cognitive function of individuals with Turner's syndrome. The current study aims to address this gap by investigating the cognitive deficits associated with Turner's syndrome.
Most-cited papers in Sexual Differentiation and Disorders
- Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome · Human Reproduction · 2016 · 209 citations
- Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency · Human Reproduction · 2008 · 165 citations
- Prevalence and patient characteristics of Mayer–Rokitansky–Küster–Hauser syndrome: a nationwide registry-based study · Human Reproduction · 2016 · 149 citations
- Organizing and activating effects of sex hormones in homosexual transsexuals. · Behavioral Neuroscience · 2002 · 74 citations
- Early Genital Surgery in Disorders/Differences of Sex Development: Patients’ Perspectives · Archives of Sexual Behavior · 2021 · 60 citations
- Hyperandrogenic States in Pregnancy · Physiological Research · 2011 · 56 citations
- Sibling Sex Ratio and Birth Order in Early-Onset Gender Dysphoric Adolescents · Archives of Sexual Behavior · 2011 · 49 citations
- Primary Empty Sella Syndrome and the Prevalence of Hormonal Dysregulation · Deutsches Ärzteblatt international · 2018 · 44 citations
- The Dutch Protocol for Juvenile Transsexuals: Origins and Evidence · Journal of Sex & Marital Therapy · 2022 · 38 citations
- Klinefelter syndrome: going beyond the diagnosis · Archives of Disease in Childhood · 2022 · 37 citations
Most recent work
- Limited Clinical Impact of Androgen Receptor Repeat Length (CAG and GGC) in Klinefelter Syndrome: A Multivariable Analysis · Andrology · 2026
- Biallelic CYB5A disruptions in 46,XY Disorder of Sex Development: Identification and Characterization of a Novel Deep Intronic Variant · medRxiv · 2026
- Impact of FSHB and FSHR Genes Polymorphisms on Hormonal Profile and Sperm Retrieval Outcome in Men With Klinefelter Syndrome: A Clinical–Genetic Predictive Study · Andrology · 2026
- First Report of True Hermaphroditism in a Goat in Peru · Pakistan Veterinary Journal · 2026
- [Precision diagnosis, personalized management and future directions of 21-hydroxylase deficiency]. · PubMed · 2026
- Neuroendocrine basis of affective behavior: what we can learn from differences in sex development (DSD) · Hormones and Behavior · 2026
- [Clinical management guideline for 21-hydroxylase deficiency(2026)]. · PubMed · 2026
- [Summary of the 25th Pediatric Endocrine and Genetic Metabolic Diseases Conference]. · PubMed · 2026
- Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency epidemiology, etiopathogenesis, clinical presentation, treatment – a systematic review · Quality in Sport · 2026
- Small Head Circumference and Height above Target Height as Potential Early Clues for Klinefelter Syndrome: A Retrospective Cohort Study · Çocuk Dergisi / Journal of Child · 2026
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