Abacı, Ayhan; Unuvar, Tolga; Bober, Ece; Giray, Özlem; Bora, Elçin; Ulgenalp, Ayfer; Özer, Erdener; Erçal, Derya; Buyukgebiz, Atilla
May 2010
Marmara Medical Journal;2010, Vol. 23 Issue 2, p302
Academic Journal
Case Study
A 16-year-old female patient presented with complaints of amenorrhea and lack of breast development. Baseline hormonal results were consistent with primary ovarian failure. Ovaries and uterus could not be demonstrated by ultrasonographic evaluation. No deletion-type mutation was detected in the SRY gene of the patient whose karyotype was 46, XY. The gonads, both of which were detected as streaks during laparoscopy, were removed because of the risk for gonadal tumour. Hormone replacement therapy was started following bilateral gonadectomy. With this case report, we aimed to underline the necessity of considering 46, XY complete pure gonadal dysgenesis in the differential diagnosis in every adolescent female patient with delayed puberty and the importance of early gonadectomy in order to avoid the risk for gonadal tumuor development.


Related Articles

  • A case of torsion of a mucinous cystadenoma in triple-X syndrome with pure gonadal dysgenesis. Jeong-Heon Lee; Kwan-Sik Kim; Yong-Gon Cho // Archives of Gynecology & Obstetrics;Jun2006, Vol. 274 Issue 3, p174 

    Triple-X female characterized by primary amenorrhea and pure gonadal dysgenesis is extremely rare. We present a patient of triple-X syndrome who has not had menarche or the development of the secondary sexual characteristics. She had a hypoplastic uterus and streaked gonads on both sides with a...

  • Cytogenetic evaluation of patients with clinical spectrum of Turner syndrome. Moka, Rajasekhar; Sreelakshmi, Kodandapani; Gopinath, Puthiya Mundyat; Satyamoorthy, Kapettu // Journal of Human Reproductive Sciences;Apr-Jun2013, Vol. 6 Issue 2, p129 

    AIM: The objective of this study was to correlate the genotype, of female patients, withshort stature and primary amenorrhea. MATERIALS AND METHODS: One hundred and forty-six subjects were recruited during 2005-2012. Microscopic and automated karyotyping analyses were done by using chromosomes...

  • Sensitivity to a Neurosteroid Is Increased during Addition of Progestagen to Postmenopausal Hormone Replacement Therapy. Wihlbäck, Anna-Carin; Sundström-Poromaa, Inger; Nyberg, Sigrid; Bäckström, Torbjörn // Neuroendocrinology;2001, Vol. 73 Issue 6, p397 

    The aim of this study was to compare the pharmacodynamic response to a neuroactive steroid, pregnanolone, before and during different hormonal settings of postmenopausal hormone replacement therapy (HRT). Twenty-seven postmenopausal women with climacteric symptoms were administered HRT in a...

  • Prevalence and Physical Distribution of SRY in the Gonads of a Woman with Turner Syndrome: Phenotypic Presentation, Tubal Formation, and Malignancy Risk. Baer, Tamar G.; Freeman, Christopher E.; Cujar, Claudia; Mansukhani, Mahesh; Singh, Bahadur; Chen, Xiaowei; Abellar, Rosanna; Oberfield, Sharon E.; Levy, Brynn // Hormone Research in Paediatrics;Oct2017, Vol. 88 Issue 3/4, p291 

    Although monosomy X is the most common karyotype in patients with Turner syndrome, the presence of Y chromosome material has been observed in about 10% of patients. Y chromosome material in patients with Turner syndrome poses an increased risk of gonadoblastoma and malignant transformation. We...

  • OCT4 immunohistochemistry may be necessary to identify the real risk of gonadal tumors in patients with Turner syndrome and Y chromosome sequences. Barros, B.A.; Moraes, S.G.; Coeli, F.B.; Assumpção, J.G.; De Mello, M.P.; Maciel-Guerra, A.T.; Carvalho, A.B.; Viguetti-Campos, N.; Vieira, T.A.P.; Amstalden, E.M.I.; Andrade, J.G.R.; Esquiaveto-Aun, A.M.; Marques-de-Faria, A.P.; D'Souza-Li, L.F.R.; Lemos-Marini, S.H.V.; Guerra-Junior, G. // Human Reproduction;Dec2011, Vol. 26 Issue 12, p3450 

    BACKGROUND The aim of this study was to investigate the frequency of gonadal tumors among patients with Turner syndrome (TS) carrying Y-derivative sequences in their chromosomal constitution. METHODS Six out of 260 patients with TS were selected based on mosaicism of the entire Y chromosome; 10...

  • Turner Syndrome With Pseudodicentric Y Chromosome Mosaicism. Yao-Yuan Hsieh; Wu-Chou Lin; Chi-Chen Chang; Fuu-Jen Tsai; Ming-Tsung Yu; Horng-Der Tsai; Chang-Hai Tsai // Journal of Assisted Reproduction & Genetics;Jun2002, Vol. 19 Issue 6, p302 

    Compares the impact of gonadal cell line upon the phenotype of a Turner syndrome patient with mosaic karyotypes. Relation of the phenotype of patients with mosaicism and the individual proportion of gonadal cell lines; Clarity on the biological basis of sex development and differentiation;...

  • Researchers explore DHEA for postmenopausal health. Pirisi, Angela // Life Extension;Feb2002, Vol. 8 Issue 2, p22 

    Investigates the importance of dehydroepiandrosterone (DHEA) on postmenopausal health. Reduction in depression and anxiety symptoms; Role of DHEA in regulating several endocrine functions; Effect of strogenic activity on hormone secretion.

  • Metabolic effects of hormone replacement regimens.  // American Family Physician;7/1/1996, Vol. 54 Issue 1, p302 

    Reports on a study conducted by the British Medical Research Council published in the 1996 issue of the `British Medical Journal' periodical concerning the metabolic effects of hormone replacement regimens for postmenopausal women. Comparison of the acceptability, side effects and metabolic...

  • Effect of Hormone Replacement Therapy on Aortic Function. Apgar, Barbara // American Family Physician;11/1/1996, Vol. 54 Issue 6, p2078 

    Presents a summary of the article `Effects of estrogen and progestin on aortic size and compliance in postmenopausal women,' by G.D. Giraud, et al from `American Journal of Obstetrics Gynecology' dated 1996. Methodology of the study; Findings of the study; Speculation on the effect of hormone...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics