Results 91 to 100 of about 2,312 (175)

Novel NR5A1 variants associated with hypospadias and disorders of sex development: A series case report of 4 patients. [PDF]

Medicine (Baltimore)
Peng X, Zu J, Wang S, Hu Q.
europepmc   +1 more source

45,X/46,XY Mixed Gonadal Dysgenesis [PDF]

, 2020
openaire   +3 more sources

[Gonadal dysgenesis with 46,XY karyotype].

Ginekologia polska, 1975
K, Boczkowski, L, Ozieblo, M, Jedrzejewski, K, Krzywdziński   +3 more
openaire   +1 more source

Rare presentations of Swyer syndrome in a 13.5-year-old female; a case report and literature review. [PDF]

BMC Pediatr
Sadeghi A, Rezaei R, Razavi Z, Salehi AM, Dehghan A.   +4 more
europepmc   +1 more source

A highly rare female phenotype with complex chromosomal mosaicism: 46,XY/45,X/46,X,r(Y). [PDF]

Clin Exp Reprod Med
Maghsoomi Z, Abiri M, Golgiri F, Iraji H, Ghahestani SM, Tajikrostami F, Emtiazi N, Eghbali M.   +7 more
europepmc   +1 more source

Urological management in a pediatric patient with mixed gonadal dysgenesis. [PDF]

Urol Case Rep
Chipa Beizaga WM, Orbegoso Celis LJ, Torres Marigorda BJ, Aguilar Ulloque MM, García Murga KN, Linares Vega V, Imán Izquierdo FJ, Aquino-Ortega R, Del Valle-Mendoza J, Silva-Caso WG.   +9 more
europepmc   +1 more source

Familial <i>WT1</i>-associated nephropathy - 46, XY Frasier syndrome and 46, XX steroid-resistant nephrotic syndrome in female siblings: A case report and review of literature. [PDF]

World J Nephrol
Khandelwal MH, Piparva KG, Parchwani D.
europepmc   +1 more source

<italic>WT1</italic> Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis.

Sex Dev
Atlas G, Bell KM, Robevska G, van den Bergen J, Hadiprajitno PI, Listyasari N, Santosa A, Juniarto AZ, Francis DI, O Apos Connell MA, Tan TY, Tucker E, Faradz SMH, Sinclair A, Ayers K.   +14 more
europepmc   +1 more source

Absent Left Testis in a Young Boy. [PDF]

AACE Endocrinol Diabetes
Aleem S, Kumar S, Guddeti A, Hari Kumar KVS.   +3 more
europepmc   +1 more source

Pediatric endocrine disorders: a review of intra-abdominal findings and appropriate imaging. [PDF]

Pediatr Radiol
Shatadal A, Vidmar KK, Allen DB, Chapman T.   +3 more
europepmc   +1 more source