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Anna Nordenström, Robert Röhle, Ute Thyen, Claire Bouvattier, Jolanta Slowikowska-Hilczer, Nicole Reisch, Hedi Claahsen van der Grinten, Aude Brac de la Perriere, Peggy T Cohen-Kettenis, Birgit Köhler
OBJECTIVES: To describe and investigate the hormone treatments in individuals with different forms of disorders of sex development (DSD) and the patients' own views on their treatment. DESIGN: Multicentre cross-sectional clinical evaluation, dsd-LIFE in 6 European countries from February 2014 to September 2015. PARTICIPANTS: A total of 1040 adolescents and adults (≥16 years) with different DSD conditions. MAIN OUTCOMES MEASURES: Hormone replacement, information received and patient satisfaction...
March 2018: Clinical Endocrinology
Bassam Bin-Abbas, Doha Al-Humaida, Afaf Al-Sagheir, Ebtesam Qasem, Mai Almohanna, Ali S Alzahrani
OBJECTIVE: To describe conflicting gender identities in three karyotypically female siblings with congenital adrenal hyperplasia (CAH) caused by a novel mutation in the CYP11B1 gene, who were assigned as males at birth and followed up to adulthood. METHODS: We present 3 siblings (16, 14 and 10 years old) who were born with severe genital virilization and raised as males. Clinical examination showed Prader IV to V external genitalia with a stretched penile length of 7 to 11 cm...
October 2014: Endocrine Practice
Michael Garcia-Roig, Miguel Castellan, Javier Gonzalez, Michael A Gorin, Omar Cruz-Diaz, Andrew Labbie, Rafael Gosalbez
PURPOSE: No consensus exists regarding the most effective procedure for neovagina formation. We describe our experience with modified single Monti tube colovaginoplasty in pediatric patients with disorders of sexual differentiation. MATERIALS AND METHODS: Six patients were retrospectively identified who underwent primary sigmoid vaginoplasty with a modified single Monti tube between 2009 and 2012. Data were collected from patient charts. The procedure is performed by isolating an 8 to 10 cm segment of distal sigmoid colon or proximal rectum, which is detubularized along the anterior mesentery, folded and retubularized longitudinally, leaving the mesentery in a cephalad position...
May 2014: Journal of Urology
Smita M Purandare, Jiyun Lee, Susan Hassed, Marilyn I Steele, Piers R Blackett, John J Mulvihill, Shibo Li
We report clinical and molecular cytogenetic studies in two patients with ring chromosome 9. Cytogenetics and fluorescent in situ hybridization (FISH) analysis using the p16 gene probe on 9p21, the ABL gene on 9q34, chromosome 9 alpha satellite-centromeric probes, and TelVision 9p and 9q probes which identify subtelomere-specific sequences on chromosome 9p and 9q, revealed 46,XX,r(9)(p24q34).ish r(9)(305J7-T7-,p16+,ABL+, D9S325-) and 46XY,r(9)(p24q34).ish r(9)(305J7-T7-,p16+,ABL+, D9S325-). Based on FISH analysis at least 115 kb was deleted on terminal 9p, and at least 95 kb from terminal 9q...
October 15, 2005: American Journal of Medical Genetics. Part A
M Kasami, M Yoshida, J Isogaki, H Ogawa, K Shinmura, Y Endo, E Kiyokawa, Y Naito, T Arai, T Kimura, R Inoue, H Sugimura
Bilateral breast tumors, a malignant phyllodes tumor in the right breast and an invasive lobular carcinoma in the left breast, occurred in a 47-year-old woman with 46XX/46XY mosaic karyotype in her peripheral blood lymphocytes and intersex external genitalia. Postmortem examination revealed bilateral ovotestis. Three of the patient's sisters also had breast cancer. In situ hybridization with a Y-specific probe revealed Y-chromosome-specific signal in both tumors, suggesting that the clonal origin of tumors in this patient was Y-containing cells...
February 1997: Pathology International
G Annerén, T Frykberg, K H Gustavson
In a family with a balanced translocation t(8;19)(p21p13), there was a boy with true hermaphroditism and a karyotype 46,XX/46XY, t(8p;19p), and a woman with Turner mosaicism 46,XX, t(8p;19p). Both of them had whole body chimerism, which in the boy and possibly also in woman was due to the occurrence of double fertilization followed by fusion of the zygotes. The pathogenetic importance of the translocation for the development of these aberrations, and the clinical picture in the two patients are discussed.
October 1981: Clinical Genetics
M Petrus, G Bourrouillou, G Dutau, P Colombies, P Rochiccioli
The authors relate the association XX male and syndrome of Pierre Robin in a child whose father presents a reciprocal equilibrated translocation 46,XY t (16;17) (p13;q21). They discuss the possible relation between these different anomalies and notably the possibility of a genic effect.
June 1981: Journal de Génétique Humaine
A Hunter, K Brierley, D Tomkins
Experience indicates that the most likely explanation for a mixture of 46,XX/46,XY cells in an amniotic fluid sample is that of maternal cell contamination and that a normal male child is to be expected at birth. We report the bith of a normal female child following prenatal diagnosis of such a mixture. Extensive postnatal studies failed to reveal an XY cell line. The possible sources of the XY cell line are discussed, as are the various techniques that were applied in an effort to discover it's origin. Cross-contamination of samples could be ruled out and there was no evidence of an unsuspected twin pregnancy...
April 1982: Prenatal Diagnosis
L M Secker-Walker, H M Cooke, P J Browett, J D Norton, C Kitchen, A G Prentice, H G Prentice
A 26-year-old man, who presented with bilateral fundal haemorrhages, was found to have chronic myeloid leukaemia (CML). The Ph chromosome was not present but a clone with t(1;9) (p32;q34) was detected. On referral for bone marrow transplant (BMT) he was found to be in accelerated phase with clonal evolution in three cell lines inv(3)(q21q26); inv(3)(q),i(17q); inv(3q)+8. Molecular investigation revealed a breakpoint on chromosome 22 within the breakpoint cluster region (bcr) similar to that found in Ph+ cases...
1989: Acta Haematologica
S Veskijkul, U Jinorose, K Kanchanaporn
A 17-year-old phenotypic female with ambiguous genitalia is presented. The patient complained of progressive dysmenorrhea, passing urine and menstrual blood through the same opening since menarche. Pelvic examination revealed and enlarged clitoris with prominent phallus, an enlarged right labio-scrotal fold with palpable gonad and a 3 mm diameter opening of both the urethral meatus and vaginal orifice at the vestibule. Chromosome analysis showed 46,XX/46XY karyotype. Laparotomy via right inguinal incision confirmed true hermaphroditism because of finding a right unilateral ovotestis...
October 1992: Journal of the Medical Association of Thailand, Chotmaihet Thangphaet
E F Davidenkova, A B Chukhlovich, O A Rozenberg, Iu A Dolina, I Ia Rudenko
The synthesis of DNA, RNA and protein was measured in the lymphoid cells of the palatine tonsils in children aged from 3 to 15 years. The rate of RNA synthesis was also studied in the peripheral blood lymphocytes of men and women of different age and also in the patients with Shereskevsky-Turner's syndrome. 3H-thymidine incorporation into the tonsillar lymphocytes was independent of sex. 3H-uridine incorporation both into the palatine lymphocytes and into the peripheral blood lymphocytes in persons under 20 years of age and over 50 years old was greater in males...
January 1978: Problemy E̊ndokrinologii
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