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Gonadal dysgenesis

Turner’s syndrome

Reviewer: Mohiedean Ghofrani, M.D., Southwest Washington Medical Center (see Reviewers page)
Revised: 9 August 2011, last major update August 2011
Copyright: (c) 2002-2011, PathologyOutlines.com, Inc.


● Describes females with a variety of features (most commonly short stature and gonadal insufficiency) associated with loss of an entire X chromosome (45X0) in about 50%, mosaicism in 15-25%, and the rest with loss of only a portion of the X chromosome containing the tip of its short arm


● Also called Ullrich-Turner syndrome


● Diagnosis requires a standard 30-cell karyotype
● Markedly elevated serum FSH, reduced serum estrogen


● Occurs in about 1:4000 live births
● Increased frequency in abortuses or women with short stature


Haploinsufficiency of genes that are normally expressed by both X chromosomes including:
● The “short-stature homeobox-containing gene on the X chromosome” (SHOX) in chondrocytes
● A lymphatic gene, leading to absence or hypoplasia of lymphatics, which causes lymphedema, cystic hygroma, webbed neck, low posterior hairline, nail dysplasia and lymphedematous hands and feet at birth
● Multiple genes involved in ovarian function, leading to gonadal dysgenesis and accelerated loss of oocytes at 15 weeks gestation

Clinical features

Growth failure: short stature with cubitus valgus, genu valgum and short fourth metacarpals
● High palate, prominent ears, chronic otitis media, obstructive sleep apnea, increased sensitivity to noise, and problems learning how to suck, blow, eat and articulate (Wikipedia)
Cardiovascular disease: including bicuspid aortic valve, coarctation of the aorta, partial anomalous pulmonary venous return (PAPVR), and atrial and ventricular septal defects
Gonadal failure: have female ducts and external genitalia, but usually no pubertal development
Learning disabilities: deficits in visuomotor skills, visual-spatial skills, visual and working memory, visual attention, executive functions and social skills
Associated with non-gonadal neoplasms: including atypical polypoid adenomyoma of uterus, endometrial adenocarcinoma, leukemia and soft tissue tumors

Case reports

● Mother and daughter with non-mosaic Turner's syndrome (Fertil Steril 2004;82:923)


● Growth hormone (to increase stature) as soon as growth failure occurs
● Cardiac imaging (MRI) at diagnosis and repeated in 5-10 year intervals to assess for congenital heart abnormalities and the emergence of aortic dilatation (precursor to aortic dissection)
● Aggressive treatment of hypertension
● Hormone replacement therapy (transdermal estradiol) beginning at normal pubertal age continued to age 50
● Routine neuropsychological testing and family support, including special education
● Also search for hidden Y chromosome mosaicism (J Pediatr Endocrinol Metab 2006;19:1113)
● Follow up medical care for various conditions in adulthood (Endocr Rev 2002;23:120, J Clin Endocrinol Metab 2010;95:1487)

Clinical images

Various images

Micro description

● Streak gonad with fibrous tissue resembling ovarian stroma

Cytogenetic images

45X0 karyotype

End of Ovary-nontumor > Gonadal dysgenesis > Turner’s syndrome

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