17 citations
,
April 2009 in “Andrologia” This case study reports that hormonal imbalances in a young boy with precocious pseudopuberty returned to normal after the removal of a testicular interstitial cell tumor, with normal spontaneous puberty following.
April 2025 in “International Journal For Multidisciplinary Research” This case report details the investigation and management of a 3-year-old girl with precocious pseudopuberty due to a Sertoli-Leydig cell tumor, highlighting the importance of early recognition and accurate diagnosis for effective treatment and prognosis.
January 2023 in “Pediatric Endocrinology Diabetes and Metabolism” This review discusses current knowledge of isolated premature pubarche in infants and reports no new findings, highlighting it as a mild, self-limiting condition that necessitates exclusion of serious causes.
21 citations
,
December 1977 in “Journal of pediatric surgery” The authors concluded that most male pseudohermaphrodites should be raised as females, recommending early gender assignment and appropriate alterations to better support coping and development.
November 2022 in “Journal of the Endocrine Society” This case study reports that in an 8-year-old male, a pituitary adenoma causing isolated high LH secretion led to early testosterone-driven puberty without typical testicular enlargement, highlighting the differential roles of LH and FSH in pubertal development.
60 citations
,
April 1998 in “Baillière s Clinical Endocrinology and Metabolism” This article reviews the genetic mutations causing male pseudohermaphroditism from 17 beta-HSD-3 and 5 alpha-RD-2 deficiencies and reports no new clinical findings.
October 2013 in “International Journal of Pediatric Endocrinology/International journal of pediatric endocrinology” This case report describes a boy with hypothalamic hamartoma experiencing pubertas precox and gelastic seizures, where leuprorelin therapy's effect on pubertas precox was controversial, but valproic acid effectively managed gelastic seizures.
April 2017 in “Turkish Journal of Pediatric Disease” This study found that 20% of children initially diagnosed with premature pubarche were later identified with other conditions like central puberty precox or congenital adrenal hyperplasia during follow-up, emphasizing the importance of ongoing differential diagnosis.
October 2022 in “Medical Clinical Update Journal” This case report describes a 7.5-year-old girl with precocious puberty displaying significant secondary sexual development and advanced bone age, treated monthly with Leuprolide.
November 2024 in “Revista de Investigación y Educación en Ciencias de la Salud (RIECS)” In this case study, a 7-year-old girl was diagnosed with Isolated Premature Pubarche after presenting with pubic hair growth and normal hormonal and bone age assessments.
18 citations
,
March 2004 in “The Journal of Urology” In this study, researchers used a hypospadiac rat model to demonstrate abnormal genital development, similar to human penoscrotal hypospadias, highlighting the model's value for studying penile growth and differentiation.
98 citations
,
July 1983 in “Journal of Steroid Biochemistry” This study in the Arab population of Gaza described pseudohermaphroditism due to 17β-HSD deficiency, where individuals showed marked masculinization after puberty despite inadequate androgen proportions.
81 citations
,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.
18 citations
,
February 2010 in “Odontology” This report describes Rabson-Mendenhall syndrome cases in two siblings and briefly reviews the literature, highlighting insulin receptor gene mutations as the underlying cause.
January 2016 in “Springer eBooks” A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
46 citations
,
December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” In this study, researchers observed that testicular 17β-hydroxysteroid dehydrogenase deficiency in an inbred Arab population in Israel leads to genital ambiguity at birth and progressive virilization after puberty.
This study found that 20% of children initially diagnosed with premature pubarche were later identified with different clinical conditions during follow-up, highlighting the need for careful differential diagnosis over time.
1 citations
,
October 2024 in “JCEM Case Reports” In this case report, a patient with pseudovaginal perineoscrotal hypospadias due to 5α-reductase deficiency presented gender dysphoria, and after genomic sequencing confirmation, injectable testosterone undecanoate treatment successfully developed desired male secondary sexual characteristics.
53 citations
,
January 2006 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, reduced androgen receptor gene methylation and shorter CAG repeats in children with premature pubarche may lead to increased hair follicle sensitivity to steroid hormones, potentially causing early pubic hair development.
January 1983 in “Elsevier eBooks” Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
75 citations
,
May 1986 in “Clinics in endocrinology and metabolism” This review explores how androgens and growth hormone influence the development of terminal hairs and sebaceous glands, attributing variability in hirsutism and acne to differing genetic sensitivities to androgens, but reports no new experimental data.
24 citations
,
October 1995 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” This study found that the LH response to nafarelin effectively distinguished gonadotropin deficiency from constitutional delay of puberty, performing comparably to the sleep test and offering certain advantages.
10 citations
,
February 2007 in “Current Opinion in Endocrinology, Diabetes and Obesity” This review discusses the early developmental origin of premature adrenarche and polycystic ovary syndrome and highlights potential utero-based mechanisms, reporting no new clinical findings.
7 citations
,
July 2003 in “Clinics in Dermatology” This article reviews several benign skin conditions in newborns, emphasizing the importance of correct identification to prevent unnecessary concern and interventions, but reports no new clinical results.
October 2024 in “Irish Journal of Medical Science (1971 -)” In this study, TENS of the T6 dermatome over a longer term was explored for its effects on weight, blood pressure, heart rate, and appetite-regulating hormones in obese subjects with moderate obstructive sleep apnea; however, results are not reported in the abstract.
January 2016 in “Springer eBooks” Pubertal acne is linked to hormonal changes, affects quality of life, and is treated similarly to adult acne.
November 2013 in “John Wiley & Sons, Ltd eBooks” The document concludes that accurate diagnosis of male and female gonadal disorders is crucial for effective treatment and better patient outcomes.
15 citations
,
May 2010 in “Pediatrics in Review” This article reviews the normal and delayed maturation of the HPG axis and pubertal development in boys and girls, emphasizing clinical aspects of diagnosing and managing delayed puberty, but it reports no new clinical findings.
2 citations
,
January 2000 in “Pediatrics in review” This article discusses diagnostic evaluations and management strategies for isosexual precocious puberty, emphasizing the importance of accurate identification and appropriate treatment, but it provides no new clinical findings.
October 1984 in “Kidney international” This case report describes a 23-year-old woman with a history of ambiguous genitalia and complex medical conditions, including a pelvic mass and hirsutism, observed from childhood to adulthood.