Results 61 to 70 of about 2,537 (222)

Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy? [PDF]

, 2013
BACKGROUND: 17β-Hydroxysteroid dehydrogenase type-3 (17βHSD-3) deficiency is a rare cause of 46,XY disorders of sex development. The enzyme converts androstenedione to testosterone, necessary for masculinization of male genitalia in utero.
Amy Vallerie, Howard M Saal, Janet Chuang, Lesley Breech, Meilan M Rutter, Peggy Crawford, Shumyle Alam   +6 more
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Intestinal Atresia in PPP1R12A ‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird   +4 more
wiley   +1 more source

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals [PDF]

, 2016
Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development ...
Achermann, JC, Correa, RV, da Silva, TE, Domenice, S, Ferraz-de-Souza, B, Ferreira, FM, Frade Costa, EM, Gomes, NL, Lerario, AM, Lin, L, Machado, AZ, Mendonca, BB, Montenegro, LR, Narciso, A, Nishi, MY, Silva, RB   +15 more
core  

An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl

Molecular Genetics &Genomic Medicine, Volume 13, Issue 11, November 2025.
A novel intronic CDKN1C variant (c.787+4A>T) was identified in an Iranian girl with IMAGe syndrome, expanding its genetic spectrum. This finding highlights the importance of whole‐exome sequencing for diagnosing rare disorders and managing life‐threatening adrenal insufficiency. ABSTRACT Introduction IMAGe syndrome, a rare disorder caused by maternally
Setila Dalili, Seyyedeh Azade Hoseini Nouri, Ameneh Sharifi, Reza Bayat, Saeid Talebi, Shahram Savad, Nazanin Medghalchi, Bahareh Rabbani, Nejat Mahdieh   +8 more
wiley   +1 more source

Amenorrhea Due to Defects in Steroid Biosynthesis [PDF]

, 1975
Amenorrhea as the first manifestation of a steroid biosynthetic defect is rather unusual. The common forms of congenital adrenal hyperplasia are classic examples of steroid biosynthetic defects.
Mathur, Rajesh S., Williamson, H. Oliver
core   +1 more source

Approach to the virilizing girl at puberty [PDF]

, 2021
Virilization is the medical term for describing a female who develops characteristics associated with male hormones (androgens) at any age, or when a newborn girl shows signs of prenatal male hormone exposure at birth.
Aliu, Nijas, Cools, Martine, Flück, Christa E, Graf, Stefanie, Santi, Maristella, Trippel, Mafalda, Van de Vijver, Koen, Zeino, Mazen   +7 more
core   +2 more sources

Society for Endocrinology Clinical Practice Guideline for the Evaluation of Androgen Excess in Women

Clinical Endocrinology, Volume 103, Issue 4, Page 540-566, October 2025.
ABSTRACT Context Androgen excess is common in women and refers to clinical or biochemical evidence of elevated androgenic steroids such as testosterone. It is associated with underlying polycystic ovary syndrome in the majority of cases. However severe androgen excess is less common and may indicate the presence of underlying adrenal or ovarian ...
Yasir S. Elhassan, James M. Hawley, Leanne Cussen, Ali Abbara, Sophie A. Clarke, Punith Kempegowda, Rima K. Dhillon‐Smith, Puja Thadani, Maureen Busby, Lucy Owusu‐Darkwah, Rachel Marrington, W. Colin Duncan, Robert K. Semple, Richard Quinton, Michael W. O'Reilly   +14 more
wiley   +1 more source

Does a Marriage Really Need Sex?: A Critical Analysis of the Gender Restriction on Marriage [PDF]

, 2003
This Note discusses the issues surrounding intersex persons and the right to marry. The Comment first discusses the constitutional protection of the right to marry, intersex conditions, and case law regarding intersex, transsexual, and same-sex marriage.
Frankle, Randi E.
core   +1 more source

Fraser of cryptophthalmosis syndrome: A case report [PDF]

, 2004
Fraser or cryptophthalmos syndrome is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly, and abnormal genitalia. Consanguinity is reported in 15-24.8% of the cases.
Adibi, B., Golalipour, M.-J., Haidary, K., Khoury, E.   +3 more
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Polycystic ovary syndrome [PDF]

, 2004
The document attached has been archived with permission from the editor of the Medical Journal of Australia. An external link to the publisher’s copy is included.Polycystic ovary syndrome (PCOS) affects 5-20% of women of reproductive age worldwide.
A Corbould, A Corbould, A Dokras, A Dunaif, A Dunaif, A Dunaif, A Dunaif, A Gambineri, AA Deeks, AA Deeks, AD Coviello, AE Joham, AJ Krentz, AM Goss, AY Chang, B Banaszewska, B Dilbaz, BA Gower, BA Swiglo, BC Fauser, BC Fauser, BO Yildiz, BO Yildiz, BO Yildiz, BO Yildiz, BO Yildiz, BW Donesky, C Battaglia, C Farquhar, C Formuso, C Kitzinger, C Siristatidis, C Villarroel, CA McHorney, CB Book, Centers for Disease Control and Prevention (CDC), CJ Carlson, CK Welt, CL Harrison, CL Harrison, CM Boomsma, CM Burt Solorzano, CM DeUgarte, CN Bairey Merz, CR McCartney, D Cibula, D Lizneva, D Rosenbaum, D Skubleny, DA Dumesic, DA Dumesic, DA Ehrmann, DM Liu, DS Kiddy, DW Polson, E Carmina, E Carmina, E Carmina, E Carmina, E Carmina, E Carvalho, E Dahlgren, E Diamanti-Kandarakis, E Diamanti-Kandarakis, E Diamanti-Kandarakis, E Lerchbaum, E Vanky, EJ van Zuuren, EO Talbott, F Alvarez-Blasco, F Fanelli, F Ramezani Tehrani, FJ Broekmans, FL Teixeira Filho, FR Day, FR Tehrani, G Chazenbalk, G Conway, G Daskalopoulos, G Guyatt, G Kosova, G Ladson, GG Gosman, GL Fraser, H Abu Hashim, H Mani, HF Escobar-Morreale, HJ Teede, HJ Teede, I Ek, I Souter, J Du, J Laitinen, J Schmidt, J Sun, J Zawadzki, JA Balfour, JA Visser, JA Visser, JE Nestler, JE Nestler, JL Cresswell, JM McAllister, JM Vink, JP Baillargeon, JS Laven, KA Townsend, KG Ewens, KK Naka, KK Roessler, KY Cha, L Barnard, L Cronin, L Cui, L Cui, L Gao, L Ibanez, L Ibanez, L Ibanez, L Manneras-Holm, L Moran, L Sterling, LJ Moran, LJ Moran, LJ Moran, LJ Moran, LJ Moran, LJ Moran, LJ Webber, LO Tso, M Api, M Eriksen, M Harris-Glocker, M Hudecova, M Kahsar-Miller, M Luque-Ramirez, M Luque-Ramirez, M Maliqueo, M Rajkhowa, M Wiksten-Almstromer, MA Sagle, MB Khomami, ME Gibson-Helm, MG Hayes, MH van Hooff, MJ Nahuis, MJ Solnik, ML Pan, ML Walls, MM Zain, MR Jones, N Cinar, N Cinar, N Lass, N Naderpoor, N Roos, NF Goodman, NK Stepto, NM Daan, NM O'Meara, O Koulouri, O Valkenburg, P Moghetti, PO Dale, Q Du, R Azziz, R Azziz, R Azziz, R Azziz, R Azziz, R Azziz, R Hart, R Homburg, R Khera, R Mathur, R Pasquali, R Saxena, R Shroff, RA DeFronzo, RC Christian, RJ Norman, RL Thomson, RN Bergman, Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group, Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group, RS Legro, RS Legro, RS Legro, RS Legro, RS Legro, S Catteau-Jonard, S Elsenbruch, S Hahn, S Iftikhar, S Mahabeer, S Palomba, S Venturoli, S Wild, S Wild, S Zhao, SA Anderson, SA Stubbs, SE Recabarren, SM Veltman-Verhu lst, SS Lim, ST Bird, T Meas, T Sir-Petermann, T Sir-Petermann, T Tang, T Tang, Thessaloniki ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group, TP Ciaraldi, TP Ciaraldi, TP Ciaraldi, TP Ciaraldi, TY Chuang, U Ezeh, U Shim, V Padmanabhan, WT Garvey, X Cai, XJ Li, XZ Jia, Y Li, Y Shi, Y Shi, YH Chen, YV Louwers, YY Zhang, ZJ Chen   +230 more
core   +1 more source