Asymmetry of the external and internal genitalia may also be present. Infants with male sex assignment may present with cryptorchidism, partial testicular dysgenesis, and hypospadias. There is usually persistence of müllerian structures. [orpha.net]

One patient presented with male phenotype with hypospadia, one presented with clitoridauxe, and five presented with female phenotype. [pubfacts.com]

[5] In the present case, the peripheral blood lymphocytes showed 80% of cells with an idicY chromosome. [ijpmonline.org]

Bofinger and colleagues described successful conception of offspring with use of ICSI in the setting of 45,X/46,X(r)Y karyotypes. 14 This individual presented with oligoasthenoteratozoospermia. [ncbi.nlm.nih.gov]

We thus find our case interesting and clinically relevant because of the extensive laboratory workup. [ijpmonline.org]

Further, no standard approach or guidelines have been established for the diagnostic workup and management of these patients. [ijpeonline.biomedcentral.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Two patients received sex hormone replacement therapy with one patient taking testosterone, whose penis became enlarged and erect after treatment, and one taking artificial cycle. [pubfacts.com]

Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]

Prognosis Clinical and psychological outcomes depend on the quality of care and level support provided. The documents contained in this web site are presented for information purposes only. [orpha.net]

Andrade JG, Guerra-Júnior G, Maciel-Guerra AT (2010) 46, XY and 45, X/46, XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis. Arq Bras Endocrinol Metabol 54:331–334 PubMed CrossRef 6. [springermedizin.de]

The very rare nature of this condition and its dismal prognosis merit its reporting. Disclosure The author reports no conflicts of interest in this work. References 1. Renu D, Rao BG, Rangnath K, Namitha. Persistent Mullerian duct syndrome. [dovepress.com]

There are very few studies describing the chemotherapy induced changes and its prognosis in malignant germ cell tumors. [jpss.eu]

Etiology Patients with 45,X/46,XY MGD mostly have a 45,X/46,XY karyotype, with the phenotype of the gonads and the external genitalia depending on the proportion of monosomic cells. [orpha.net]

[…] and can be identified as a testis or ovary (usually is a testis) and the other gonad is a streak Streak testis: streak tissue identified at periphery of differentiated testis Streak gonad: ovarian type stroma without differentiated gonadal structures Etiology [pathologyoutlines.com]

Therefore, a significant role of mutated SRY in the etiology of gonadal dysgenesis in patients harboring 45,X/46,XY karyotype and variants seems very unlikely. ( 20699606 ). [humpath.com]

Erdoğan S, Kara C, Uçaktürk A, Aydın M (2011) Etiological classification and clinical assessment of children and adolescents with disorders of sex development. J Clin Res Pediatr Endocrinol 3:77–83 PubMed CrossRef 15. [springermedizin.de]

Summary Epidemiology Prevalence is unknown. Clinical description The clinical manifestations are highly variable, ranging from partial virilisation and ambiguous genitalia at birth to patients with a completely male or female phenotype. [orpha.net]

[…] during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare urogenital disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Its epidemiology in Sub-Saharan Africa is not known. This study reports experience in the management of 3 cases at the Yaounde Gynecologic-Obstetric and Paediatric Hospital. [afrjpaedsurg.org]

Reproductive endocrinology, physiology, pathophysiology, and clinical management. 4th ed. Philadelphia: W.B. Saunders; 1999. p. 153–190. 20 Larsen WJ. Development of the urogenital system.In: Larsen WJ, editor. Human embryology. 2nd ed. [doi.org]

Chomatin negative Barr bodies Low immunoglobulins levels Prognostic factors High risk for gonadoblastoma (30%) if Y chromosome material is present, which may obliterate testicular elements and cause incorrect diagnosis Treatment Excise gonads early to prevent [pathologyoutlines.com]

This is done to prevent future gonadal cancer. Last Updated 06/2017 The Disorders of Sex Development Center at Cincinnati Children’s combines specialized treatment and compassionate care at one of the top pediatric hospitals in the nation. [cincinnatichildrens.org]

A differential diagnosis between the two conditions has important clinical implications for gender assignment; furthermore, early gonadectomy in MGD patients is needed to prevent the development of malignant germ cell tumors. [doi.org]

In this case it is important that bilateral gonadectomy to be performed before the patient reaches puberty, not only to prevent the development of malignant tumors, but also to avoid virilization if the patient is to be raised as a female. [jpss.eu]

Affected men may sometimes have a low libido, and need extra care to prevent osteoporosis at an earlier age than the general population. [aisdsd.org]