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Delayed pubarche.
Baldo F, Barbi E, Tornese G. Baldo F, et al. Ital J Pediatr. 2021 Sep 6;47(1):180. doi: 10.1186/s13052-021-01134-0. Ital J Pediatr. 2021. PMID: 34488834 Free PMC article. Review.
Exposition to endocrine disruptors has also been described as a possible cause of delay of pubic hair development. Basic blood tests, karyotype and first level imaging studies are helpful in the differential diagnosis....
Exposition to endocrine disruptors has also been described as a possible cause of delay of pubic hair development. Basic blood …
Androgenization in Klinefelter syndrome: Clinical spectrum from infancy through young adulthood.
Nassau DE, Best JC, Cohen J, Gonzalez DC, Alam A, Ramasamy R. Nassau DE, et al. J Pediatr Urol. 2021 Jun;17(3):346-352. doi: 10.1016/j.jpurol.2021.02.021. Epub 2021 Feb 24. J Pediatr Urol. 2021. PMID: 33726973 Review.
Testicular failure causing decreased circulating testosterone (T) and germ cell depletion, a hallmark feature in KS, commonly begins shortly after the onset of puberty and leads to the most commonly recognized KS traits: small testes, azoospermia, gynecomastia, decreased facial a …
Testicular failure causing decreased circulating testosterone (T) and germ cell depletion, a hallmark feature in KS, commonly begins shortly …
The molecular basis of congenital atrichia in humans and mice: mutations in the hairless gene.
Ahmad W, Panteleyev AA, Christiano AM. Ahmad W, et al. J Investig Dermatol Symp Proc. 1999 Dec;4(3):240-3. doi: 10.1038/sj.jidsp.5640220. J Investig Dermatol Symp Proc. 1999. PMID: 10674375 Free article. Review.
Congenital atrichia is a form of total alopecia inherited in an autosomal recessive pattern. In individuals affected with this form of hair loss, hairs are typically absent from the scalp, and patients are nearly completely devoid of eyebrows, eyelashes, axillary an …
Congenital atrichia is a form of total alopecia inherited in an autosomal recessive pattern. In individuals affected with this form of ha
Inactivating mutations of the human luteinizing hormone receptor in both sexes.
Latronico AC, Arnhold IJ. Latronico AC, et al. Semin Reprod Med. 2012 Oct;30(5):382-6. doi: 10.1055/s-0032-1324721. Epub 2012 Oct 8. Semin Reprod Med. 2012. PMID: 23044874 Review.
The testes have only slightly reduced size but mature Leydig cells are absent or scarce (Leydig cell hypoplasia). Genetic females with inactivating LHCGR mutations have female external genitalia, spontaneous breast and pubic hair development at puberty, and n …
The testes have only slightly reduced size but mature Leydig cells are absent or scarce (Leydig cell hypoplasia). Genetic females wit …
46, XX SRY-positive male syndrome presenting with primary hypogonadism in the setting of scleroderma.
Velasco G, Savarese V, Sandorfi N, Jimenez SA, Jabbour S. Velasco G, et al. Endocr Pract. 2011 Jan-Feb;17(1):95-8. doi: 10.4158/EP10184.CR. Endocr Pract. 2011. PMID: 20841307 Review.
Physical examination findings were remarkable for a height of 157.5 cm; weight of 72.7 kg; extensive, diffuse thickening of the skin; mild gynecomastia; little axillary and pubic hair; and soft testes (1-2 mL bilaterally). Initial laboratory testing revealed the fol …
Physical examination findings were remarkable for a height of 157.5 cm; weight of 72.7 kg; extensive, diffuse thickening of the skin; mild g …
Spontaneous virilization around puberty in NR5A1-related 46,XY sex reversal: additional case and a literature review.
Adachi M, Hasegawa T, Tanaka Y, Asakura Y, Hanakawa J, Muroya K. Adachi M, et al. Endocr J. 2018 Dec 28;65(12):1187-1192. doi: 10.1507/endocrj.EJ18-0218. Epub 2018 Sep 15. Endocr J. 2018. PMID: 30224582 Free article. Review.
On examination, her clitoris was 35 mm long and 10 mm wide, with Tanner 3 pubic hair. Urogenital sinus and labial fusion was absent, while her uterus was found to be severely hypoplastic. ...
On examination, her clitoris was 35 mm long and 10 mm wide, with Tanner 3 pubic hair. Urogenital sinus and labial fusion was …
Pure seminoma arising in androgen insensitivity syndrome (testicular feminization syndrome): a case report and review of the literature.
Collins GM, Kim DU, Logrono R, Rickert RR, Zablow A, Breen JL. Collins GM, et al. Mod Pathol. 1993 Jan;6(1):89-93. Mod Pathol. 1993. PMID: 8093980 Review.
Androgen insensitivity (testicular feminization) syndrome is a rare inherited form of male pseudohermaphroditism that occurs in phenotypically normal women with adequate breast development, normal external genitalia, a vagina of variable depth, absent uterus, and sparse or …
Androgen insensitivity (testicular feminization) syndrome is a rare inherited form of male pseudohermaphroditism that occurs in phenotypical …
Testicular feminization syndrome. Four case reports with a brief review of the literature.
Afework S. Afework S. Ethiop Med J. 1989 Jul;27(3):151-4. Ethiop Med J. 1989. PMID: 2666126 Review.
Four cases of testicular feminization syndrome in Ethiopian patients are described. All four patients had normal female breasts, scanty pubic and axillary hair and absent internal genital organs. Three had bilateral inguinal or labial masses. ...
Four cases of testicular feminization syndrome in Ethiopian patients are described. All four patients had normal female breasts, scanty p