research Abstracts
Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
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research Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia
Women with nonclassic congenital adrenal hyperplasia experience more sexual dysfunction and distress.
research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
research Ocular manifestations in a case of Kallmann syndrome – An interesting case report on isolated gonadotropin-releasing hormone deficiency
Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.
research A General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report
Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
research Umbilical keratinous cyst in a 7-year-old girl: A case report
A 7-year-old girl had a non-painful skin growth at her belly button, which was removed and identified as a keratinous cyst.
research SUN-208 Rare Case of 47XXY/46XX Mosaic Klinefelter Syndrome
Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
research Outcomes of pudendal thigh flaps in the reconstruction of vaginal agenesis: A tertiary care experience
The technique successfully reconstructed a functional neo-vagina with 100% survival and patency, but lacked mucus secretion.
research Delayed Puberty
Delayed puberty affects some teens, and early treatment with hormones can help improve their growth and social well-being.
research Hair tourniquet syndrome of penis: A rare situation in boys with serious complications if not recognized
Hair wrapped tightly around a boy's penis can cause serious damage if not treated quickly.
research P422 : Eruptive syringoma: an unusual presentation with androgenetic alopecia
A 25-year-old man had an unusual case of benign skin tumors and hair loss.
research Altered brain and pituitary androgen metabolism by prenatal, perinatal or pre- and postnatal finasteride, flutamide or dihydrotestosterone treatment in juvenile male rats
Treatment during development affects hormone balance and sexual behavior in male rats.
research The Aromatase Inhibitor Fadrozole and the 5-Reductase Inhibitor Finasteride Affect Gonadal Differentiation and Gene Expression in the Frog Silurana tropicalis
Fadrozole and Finasteride change frog sex ratios and cause intersex animals with altered gene expressions.
research Hybrid Eccrine Gland and Hair Follicle Hamartoma
A rare skin growth in a baby was successfully removed without coming back.
research Role of Environmental Factors and Gonadotoxin Exposure in Unexplained Male Infertility
Environmental factors and exposure to toxins may contribute to male infertility by affecting sperm and hormone function.
research High-risk male teenager with concurrent gonorrhea and syphilis infection: An alarming call
The document concludes that it's concerning when a teenage boy has both gonorrhea and syphilis at the same time.
research Familial Sexual Precocity
Familial sexual precocity in girls may be more common than previously thought.
research Genetic analysis does not confirm non-classical congenital adrenal hyperplasia in more than a third of the women followed with this diagnosis
Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
research 5-Alpha reductase deficiency
5-alpha reductase deficiency leads to male sexual development issues and treatments like finasteride help with prostate enlargement and hair loss.
research Becker's Nevus Syndrome
Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
research Diagnostic imaging in congenital adrenal hyperplasia – how does it help?
Imaging helps detect adrenal gland issues and monitor treatment in congenital adrenal hyperplasia, and can identify tumors affecting fertility.
research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
research An Unusual Cause of Primary Amenorrhea
The 18-year-old girl likely has a condition called müllerian agenesis, which caused her to not have a uterus and experience no menstrual periods.
research Androgen levels and apoptosis in the testis during postnatal development of finasteride-treated male rat offspring
Finasteride treatment in male rats can reduce fertility and affect sperm development in their offspring.
research Genitalia, Male The effect of finasteride on spermatogenesis of Mesocricetus auratus 1 Impacto da finasterida na espermatogênese do Mesocricetus auratus
Finasteride significantly reduced sperm production and caused testicular atrophy in hamsters.
research Eruptive syringomas in Down’s syndrome
People with Down's syndrome are more likely to have syringomas.
research Sex-dependent effect of a low neurosteroid environment and intrauterine growth restriction on fetal guinea pig brain development.
Reduced neurosteroids and growth issues can harm fetal brain development, especially in males.
research Isotretinoin-unresponsive acne as a sign of a congenital disorder: a case of 21-hydroxylase deficiency
Acne not improved by usual treatments may indicate a genetic disorder.
research Recurrent Pregnancy Loss Associated Cytogenetic and Genetic Anomalies – Study from Eastern India
Genetic variations contribute to over 10% of recurrent early pregnancy loss cases.
research Nipple Differentiation in Fetal Male Rats Treated with an Inhibitor of the Enzyme 5α-Reductase: Definition of a Selective Role for Dihydrotestosterone*
Blocking a specific enzyme in male rat fetuses leads to the development of nipples and feminized genitalia.