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Abstract

Gonadal dysgenesis

Disorders of sex development (DSD), previously referred to as intersex disorders, comprise a variety of congenital diseases in which the development of chromosomal, gonadal, or anatomic gender is atypical. DSD can be classified into four categories on the basis of gonadal histologic features: female pseudohermaphroditism (46,XX with two ovaries), male pseudohermaphroditism (46,XY with two testes), true hermaphroditism (ovotesticular DSD with both ovarian and testicular tissues) and gonadal dysgenesis.

In the present article, only gonadal dysgenesis is discussed. Gonadal dysgenesis summarizes the syndromes of either pure gonadal dysgenesis (46,XX or 46,XY = Swyer-Syndrom with bilateral streak gonads) or mixed gonadal dysgenesis (i.e. with mosaic 45,X0/46,XY, one testis or ovary and one streak gonad) and the Ullrich-Turner syndrome.

Dysgenetic testes are characterized by a multifactorial and complex syndrome that has a broad spectrum of phenotypes ranging from moderate impairment of spermatogenesis to severe disorders of sexual development and differentiation. DSD patients with XY-gonadal dysgenesis have an elevated risk of developing germ cell tumors, i. e. the seminomatous and nonseminatous tumors.

Ullrich-Turner syndrome is a DSD associated with abnormalities of the X chromosome (45,X0 or mosaic), occurring in about 1 per 2500 liveborn girls. Ullrich-Turner syndrome is usually associated with reduced adult height, gonadal dysgenesis and thus insufficient circulating levels of female sex steroids leading to a primary amenorrhea, premature ovarian failure and sterility. The average intellectual performance is within the normal range. Parents receiving a prenatal diagnosis of Ullrich-Turner syndrome should be advised of the broad phenotypic spectrum and the good quality of life observed in Ullrich-Turner syndrome in recent years.

In Ullrich-Turner syndrome patients with ovarian failure, the hormone replacement therapy (HRT) is necessary to achieve the development of normal female sexual characteristics, a healthy physical and psychological personal image and to prevent osteoporosis. Pregnancy occurs in rare cases spontaneously, but is possible if desired with oocyte donation. A careful cardiovascular follow-up during pregnancy and labour is necessary. In children with DSD clinical and diagnostic evaluation, therapy and psychosocial management, the necessity of sex steroid replacement and growth hormone therapy should be solved in a team approach that involves a gynecologist, pediatric endocrinologist, geneticist, neonatologist, urologist, radiologist, psychiatrist and social worker allowing timely diagnosis and proper management.

CME Prakt Fortbild Gynakol Geburtsmed Gynakol Endokrinol 2016; 12(2): 100–112

Keywords
Dysorders of sexual development (DSD), gonadal dysgenesis, Swyer?s syndrome, Turner?s syndrome, streak gonads

Katrin Lenglinger1, Anna Erk1, Binta Leigh3, Christoph Dorn2,
Uwe Ulrich1
1 Klinik für Gynäkologie und Geburtshilfe,
Martin-Luther-Krankenhaus, Berlin
2 amedes experts Hamburg, Facharzt-Zentrum für Kinderwunsch,
Pränatale Medizin, Endokrinologie und Osteologie, Hamburg
3 Klinik für Gynäkologie und Geburtshilfe, Städtisches
Klinikum Brandenburg, Brandenburg an der Havel
Reviewer: Marion Lübke, Stuttgart,
und Cordula Schippert, Hannove

Lenglinger K. Gonadendysgenesie … Gynakol Geburtsmed Gynakol Endokrinol 2016; 12(2): 100–112 publiziert 31.07.2016 www.akademos.de/gyn ©akademos Wissenschaftsverlag 2016 ISSN 1614-8533