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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1975 1
1976 1
1980 1
1981 1
1982 3
1984 1
1985 1
1986 1
1987 2
1989 1
1991 4
1992 5
1993 1
1994 4
1995 4
1996 3
1997 3
1998 2
1999 4
2000 5
2001 1
2002 10
2003 5
2004 7
2005 7
2006 8
2007 7
2008 6
2009 5
2010 9
2011 8
2012 8
2013 5
2014 10
2015 4
2016 7
2017 6
2018 4
2019 10
2020 13
2021 8
2022 7
2023 8
2024 2

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196 results

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Page 1
Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care.
Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, Baratz Dalke K, Liao LM, Lin-Su K, Looijenga LH 3rd, Mazur T, Meyer-Bahlburg HF, Mouriquand P, Quigley CA, Sandberg DE, Vilain E, Witchel S; Global DSD Update Consortium. Lee PA, et al. Horm Res Paediatr. 2016;85(3):158-80. doi: 10.1159/000442975. Epub 2016 Jan 28. Horm Res Paediatr. 2016. PMID: 26820577 Free article. Review.
An update on the clinical evaluation of infants and older individuals with ambiguous genitalia including perceptions regarding male or female assignment is discussed. ...The evolution of diagnosis and care continues, while it is still impossible to predict ge …
An update on the clinical evaluation of infants and older individuals with ambiguous genitalia including perceptions regarding …
PELVIS Syndrome.
Girard C, Bigorre M, Guillot B, Bessis D. Girard C, et al. Arch Dermatol. 2006 Jul;142(7):884-8. doi: 10.1001/archderm.142.7.884. Arch Dermatol. 2006. PMID: 16847205 Review.
BACKGROUND: Large perineal hemangiomas can be associated with congenital anomalies, including anorectal, urinary tract, spine, and external genitalia malformations. OBSERVATIONS: We describe 2 infants with large sacral and perineal hemangiomas, with severe malformation of …
BACKGROUND: Large perineal hemangiomas can be associated with congenital anomalies, including anorectal, urinary tract, spine, and external …
Androgen insensitivity syndrome.
Mendoza N, Motos MA. Mendoza N, et al. Gynecol Endocrinol. 2013 Jan;29(1):1-5. doi: 10.3109/09513590.2012.705378. Epub 2012 Jul 20. Gynecol Endocrinol. 2013. PMID: 22812659
The symptoms range from phenotypically normal males with impaired spermatogenesis to phenotypically normal women with primary amenorrhea. Various forms of ambiguous genitalia have been observed at birth. The diagnosis is confirmed by determining the exact mut …
The symptoms range from phenotypically normal males with impaired spermatogenesis to phenotypically normal women with primary amenorrhea. Va …
The clinical characteristics and quality of life of 248 pediatric and adult patients with Congenital Adrenal Hyperplasia.
Shafaay EA, Aldriweesh MA, Aljahdali GL, Babiker A, Alomar AO, Alharbi KM, Aldalaan H, Alenazi A, Alangari AS, Alsagheir A, Adriaansen BPH, Claahsen-van der Grinten HL, Al Alwan I. Shafaay EA, et al. Front Endocrinol (Lausanne). 2023 Jun 6;14:1122435. doi: 10.3389/fendo.2023.1122435. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37347111 Free PMC article.
The most frequently reported gene defect was CYP21A2, while the most commonly reported symptoms/signs were ambiguous genitalia and obesity. Almost all female patients had received corrective surgery. The questionnaire response rate was 86.3% (n=214/248). The CAH pat …
The most frequently reported gene defect was CYP21A2, while the most commonly reported symptoms/signs were ambiguous genitalia …
Update on the surgical approach for reconstruction of the male genitalia.
Romao RLP, Pippi Salle JL. Romao RLP, et al. Semin Perinatol. 2017 Jun;41(4):218-226. doi: 10.1053/j.semperi.2017.03.015. Epub 2017 May 3. Semin Perinatol. 2017. PMID: 28478087 Review.
The report addresses the following topics: surgical input in the evaluation of the newborn with an undervirilized external genitalia, including gender assignment considerations; controversies surrounding timing and indication for hypospadias surgery in proximal cases as well as u …
The report addresses the following topics: surgical input in the evaluation of the newborn with an undervirilized external genitalia, includ …
Neonatal screening for congenital adrenal hyperplasia.
White PC. White PC. Nat Rev Endocrinol. 2009 Sep;5(9):490-8. doi: 10.1038/nrendo.2009.148. Nat Rev Endocrinol. 2009. PMID: 19690561 Review.
If not promptly diagnosed and treated, CAH can cause death in early infancy from shock, hyponatremia and hyperkalemia. Affected girls usually have ambiguous genitalia but boys appear normal; therefore, newborn babies are commonly screened for CAH in the US and many …
If not promptly diagnosed and treated, CAH can cause death in early infancy from shock, hyponatremia and hyperkalemia. Affected girls usuall …
The Long Path to Our Current Understanding Regarding Care of Children with Differences/Disorders of Sexual Development.
Witchel SF, Mazur T, Houk CP, Lee PA. Witchel SF, et al. Horm Res Paediatr. 2022;95(6):608-618. doi: 10.1159/000527042. Epub 2022 Nov 29. Horm Res Paediatr. 2022. PMID: 36446331 Free article. Review.
Testes were associated with maleness from antiquity, and ancient societies had fanciful myths about the origins of the sexes and about fetal sexual development. 17th century anatomists developed the concept that mammals developed from eggs and discovered sperm in semen; in 1878, …
Testes were associated with maleness from antiquity, and ancient societies had fanciful myths about the origins of the sexes and about fetal …
Congenital diaphragmatic hernia and early lethality in PIGL-related disorder.
Winter-Paquette LM, Al Suwaidi HH, Sajjad Y, Bricker L. Winter-Paquette LM, et al. Eur J Med Genet. 2022 May;65(5):104501. doi: 10.1016/j.ejmg.2022.104501. Epub 2022 Apr 1. Eur J Med Genet. 2022. PMID: 35378319
Key features included: left-sided congenital diaphragmatic hernia, inferior vermian dysgenesis/hypoplasia, prenasal edema, cleft palate, micropenis/ambiguous genitalia (in 2 of 3 babies), bilateral renal pelvic dilatation (in twins, first baby showed slightly enlarg …
Key features included: left-sided congenital diaphragmatic hernia, inferior vermian dysgenesis/hypoplasia, prenasal edema, cleft palate, mic …
Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase Deficiency.
Yildiz M, Isik E, Abali ZY, Keskin M, Ozbek MN, Bas F, Ucakturk SA, Buyukinan M, Onal H, Kara C, Storbeck KH, Darendeliler F, Cayir A, Unal E, Anik A, Demirbilek H, Cetin T, Dursun F, Catli G, Turan S, Falhammar H, Baris T, Yaman A, Haklar G, Bereket A, Guran T. Yildiz M, et al. J Clin Endocrinol Metab. 2021 Aug 18;106(9):e3714-e3724. doi: 10.1210/clinem/dgab225. J Clin Endocrinol Metab. 2021. PMID: 33830237
Nineteen patients (19%) had initially been misdiagnosed with 21-hydroxylase deficiency. Female adult height was 152 cm [-1.85 SD score (SDS)] and male 160.4 cm (-2.56 SDS).None of the NC-11betaOHD girls had ambiguous genitalia (C-11betaOHD 100%), and none of …
Nineteen patients (19%) had initially been misdiagnosed with 21-hydroxylase deficiency. Female adult height was 152 cm [-1.85 SD score …
The role of ultrasound to evaluate the disorders of sex development: a pictorial essay.
Hosokawa T, Tanami Y, Sato Y, Hosokawa M, Oguma E. Hosokawa T, et al. J Ultrasound. 2022 Sep;25(3):745-755. doi: 10.1007/s40477-021-00632-5. Epub 2022 Jan 6. J Ultrasound. 2022. PMID: 34988914 Free PMC article.
However, in the clinical setting, the only information that sonographers have prior to ultrasound examination is the appearance of the external genitalia. The following DSD presentations are commonly observed: (1) male external genitalia present at birth, without testis in …
However, in the clinical setting, the only information that sonographers have prior to ultrasound examination is the appearance of the exter …
196 results