Gonadal Dysgenesis (Gonadal Agenesis)

A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis.

Also Known As:

Networked: 419 relevant articles (2 outcomes, 35 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Androgen-Insensitivity Syndrome (Testicular Feminization)
2.	Turner Syndrome (Turner's Syndrome)
3.	Ovotesticular Disorders of Sex Development
4.	Disorders of Sex Development (Intersexuality)
5.	Gonadal Dysgenesis (Gonadal Agenesis)

Experts

1.	Parker, Keith L: 6 articles (08/2007 - 02/2002)
2.	Harley, Vincent R: 5 articles (04/2012 - 01/2002)
3.	Gravholt, Claus Højbjerg: 4 articles (02/2005 - 01/2002)
4.	Gravholt, Claus H: 3 articles (04/2012 - 11/2005)
5.	Maciel-Guerra, A T: 3 articles (04/2011 - 06/2000)
6.	Morel, Yves: 3 articles (08/2007 - 01/2002)
7.	Zhao, Liping: 3 articles (07/2004 - 10/2002)
8.	Majdic, Gregor: 3 articles (11/2002 - 02/2002)
9.	Balsamo, Antonio: 2 articles (06/2015 - 11/2009)
10.	Guercio, Gabriela: 2 articles (01/2014 - 01/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Gonadal Dysgenesis:

1.	H-Y AntigenIBA 04/15/1977 - "In the present article, we report positive results in the first case of 46,XY pure gonadal dysgenesis (Swyer's syndrome) to be typed for H-Y antigen. " 01/01/1981 - "These observations of genetic heterogeneity must be considered when interpreting studies in which individuals with XY gonadal dysgenesis may or may not show H-Y antigen." 04/01/1986 - "These findings suggest a relation between the tumorization potentiality of the gonadal remnants and the H-Y antigen levels in 46,XY pure gonadal dysgenesis." 06/01/1984 - "Absence of H-Y antigen in a case of sporadic pure gonadal dysgenesis." 01/01/1984 - "The authors describe a case they have personally seen of pure gonadal dysgenesis with caryotype 46 XY (Swyers' syndrome) in which they found absence of HY antigen. "
2.	Estrogens (Estrogen)FDA Link 12/01/1996 - "The effect of lack of estrogen on LH pulse characteristics was inferred by analyzing the LH profiles of 15 girls with gonadal dysgenesis who were age-matched to girls with spontaneous puberty. " 01/01/1993 - "The patients with gonadal dysgenesis 46XX had lowered levels of estrogens and elevated levels of FSH and LH. " 01/01/1986 - "33 subjects with gonadal dysgenesis were studied: 10 untreated and 13 treated with estrogen-progestogen combination. " 06/01/1985 - "Chronic estrogen deficiency, as in untreated patients with gonadal dysgenesis, is associated with failure to manifest the elevation of Sm-C that occurs during normal puberty." 10/01/1984 - "The authors conclude that earlier estrogen therapy alone for patients with gonadal dysgenesis does not significantly compromise final height and produces development more in keeping with their normal adolescent peers."
3.	DNA (Deoxyribonucleic Acid)IBA 02/27/2009 - "DNA binding activity studies and computational approach of mutant SRY in patients with 46, XY complete pure gonadal dysgenesis." 04/01/1996 - "Clinical and DNA studies on 46, XY females with gonadal dysgenesis. " 06/01/1992 - "Results of DNA study on two patients of gonadal dysgenesis with a 45,X/46,X,Ynf (non-fluorescent Y chromosome) karyotype are described. " 10/01/2011 - "A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis." 12/01/2002 - "Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes."
4.	Androgen Receptors (Androgen Receptor)IBA 12/01/1979 - "Endocrine and androgen-receptor studies in a patient with XY gonadal agenesis." 12/01/1979 - "This is the first report of a patient with XY gonadal agenesis in whom androgen receptors in the target cells are demonstrated." 01/01/1992 - "Southern-blotting studies and PCR analyses of SRY, androgen receptor and CYP21B genes can be routinely used for the direct diagnosis of gonadal dysgenesis, androgen insensitivity syndromes and congenital adrenal hyperplasia, respectively. " 01/01/2012 - "In all 58 46, XY DSD patients, 29 were suspected of a disorder of androgen action (12 with an androgen receptor mutation), and in 9, gonadal dysgenesis was found and, in 20, severe hypospadias e.c.i. Implementation of the current consensus statement in a resource-poor environment is very difficult. " 01/01/2002 - "Sequencing of exons 2-8 of the androgen receptor after study of testosterone precursors following human chorionic gonadotrophin stimulation is recommended when gonadal dysgenesis and true hermaphroditism can be excluded."
5.	GonadotropinsIBA 12/01/1972 - "Gonadotropin dynamics in patients with gonadal dysgenesis: a model for the study of gonadotropin regulation." 04/01/2004 - "Knockout mice lacking SF-1 have adrenal and gonadal agenesis, impaired gonadotropin expression, and structural abnormalities of the ventromedial hypothalamic nucleus. " 05/01/1993 - "The lack of spontaneous puberty seems related both with gonadotropin deficiency, as suggested by hormonal data and MRI of the pituitary region, and with gonadal dysgenesis, due to the X/autosome translocation, involving the critical region of the X chromosome essential for normal ovarian function. " 09/01/1987 - "Ontogeny of gonadotropin secretion in congenital anorchism: sexual dimorphism versus syndrome of gonadal dysgenesis and diagnostic considerations." 04/01/1987 - "In those forms of gonadal dysgenesis not associated with a Y chromosome (e.g., 45,X; 45,X/46,XX; 46,XX) there is no definite increase in neoplasia, suggesting that elevated gonadotropin levels per se are not carcinogenic. "
6.	HormonesIBA 04/01/1990 - "These were the type of gonadal dysgenesis (45 XO, 46 XX or 46 XY), the number of embryos replaced, whether they had been frozen, whether the egg donor was anonymous and finally the influence of the hormone substitution protocol. " 03/01/1987 - "[Hormone findings in women with gonadal dysgenesis]." 09/01/1984 - "We recommend prophylactic gonadectomies and subsequent hormone replacement in all patients with female phenotypes, gonadal dysgenesis, and cytogenetically indeterminate sex chromosomal fragments." 04/01/1982 - "The conspicuous difference in the hormonal status is that the latter two groups lack gonadotrophins, while in gonadal dysgenesis these hormones are grossly elevated. " 12/01/1980 - "The need for routine thyroid hormone determinations in patients with gonadal dysgenesis is emphasized. "
7.	Testosterone (Sustanon)FDA Link 08/01/1988 - "On the basis of our study of 38 such mares, we have identified four grades or classes of XY sex reversal according to this scheme: class I, nearly normal female, of which some are fertile; class II, female with gonadal dysgenesis, normal mullerian development; class III, intersex mare with gonadal dysgenesis, abnormal mullerian development, enlarged clitoris; class IV, virilized intersex characterized by high levels of testosterone. " 10/01/2004 - "We identified a new heterozygous SF1 gene mutation, C16X, in a 46, XY patient showing gonadal dysgenesis with normal adrenal function: low basal levels of AMH and testosterone (T), weak T response to hCG, hypoplastic testes with abundant seminiferous tubules but rare germ cells. " 02/01/1999 - "Intersex states result either from gonadal dysgenesis, in which both Leydig and Sertoli cell populations are affected, or from impaired secretion or action of either testosterone or AMH. " 02/01/1997 - "Patients with gonadal dysgenesis had significantly lower stimulated/basal testosterone levels than the controls (P = 0.0001). " 10/01/1962 - "Synthesis of testosterone by subjects with gonadal dysgenesis and XXY chromosome constitution."
8.	Prostaglandins D (PGD)IBA 02/27/2009 - "Mutations of SRY are the cause of 46,XY complete pure gonadal dysgenesis (PGD) in 10-15% of patients. " 05/01/2005 - "Although the occurrence of pure gonadal dysgenesis PGD is usually sporadic and nonfamilial, here we present 3 sisters with 46, XX PGD, who are born from a first cousin marriage. " 09/01/2004 - "Mutations of SRY are the cause of complete pure gonadal dysgenesis (PGD) in 10-15% of patients. " 07/01/2002 - "In humans, mutations in the testis-determining gene SRY result in XY sex reversal with pure gonadal dysgenesis (PGD). " 01/01/1979 - "The syndrome of pure gonadal dysgenesis (PGD) cannot always easily be distinguished from other disorders of gonadal development. "
9.	Follicle Stimulating Hormone (Follitropin)FDA Link 09/01/1994 - "This study shows the inhibition of LH and follicle-stimulating hormone (FSH) release in normal men, postmenopausal women and patients with gonadal dysgenesis, using different doses and i.m., s.c. " 12/01/1980 - "In groups at risk, follicle-stimulating hormone (FSH) studies are appropriate in cases of renal disease occurring in phenotypic prepubertal females; in women with XY gonadal dysgenesis, BUN and urinalysis should be studied." 06/01/1981 - "Patients in category 1 were diagnosed as having hypogonadotropic hypogonadism (low or normal follicle-stimulating hormone [FSH]) or gonadal dysgenesis (elevated FSH). " 12/01/1978 - "Twenty-four women with premature ovarian failure and 9 with gonadal dysgenesis had raised basal follicle-stimulating hormone (FSH) levels. " 11/01/1992 - "Further evidence for differential regulation of follicle-stimulating hormone (FSH) and luteinizing hormone (LH): increased FSH and decreased LH levels in a patient with familial pure gonadal dysgenesis."
10.	XY female 46IBA 05/01/2015 - "Human mutations in NR5A1were initially found in two 46, XY female patients suffering from severe gonadal dysgenesis and primary adrenal failure. " 01/01/2015 - "A rare cause of primary amenorrhoea, the XY female with gonadal dysgenesis." 09/10/2013 - "341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis." 04/01/2011 - "In addition, we report the occurrence of the p.G95R mutation in a 46,XY female with complete gonadal dysgenesis. " 01/01/2008 - "Human mutations in SF1 were initially found in two 46,XY female patients with severe gonadal dysgenesis and primary adrenal failure. "

Therapies and Procedures

1.	Laparotomy 01/01/1996 - "Exploratory laparotomy revealed presence of a small atropic uterus, unilateral gonadal dysgenesis with fallopian tubes on both sides and a cryptorchid testis on the left side. " 09/01/1991 - "Exploratory laparotomy revealed presence of an infantile uterus and unilateral gonadal dysgenesis with both testes and fallopian tube on the right side. " 04/01/1996 - "The laparoscopic approach is a safe and effective alternative to laparotomy in the management of patients with Y-chromosome-bearing gonadal dysgenesis and with androgen insensitivity syndrome."
2.	Estrogen Replacement Therapy 08/01/1977 - "This study supports the view that estrogen replacement therapy in gonadal dysgenesis carries the risk of endometrial hyperplasia and neoplasia. " 09/01/1980 - "This study and the review of the available data reported in the literature on the endometrial response to estrogen therapy in patients with gonadal dysgenesis stress the importance of appropriate estrogen and progestogen dosage to avoid the hazards of abnormal endometrial pattern in young patients receiving estrogen replacement therapy." 06/01/1985 - "Somatomedin-C levels in children and adolescents with gonadal dysgenesis: differences from age-matched normal females and effect of chronic estrogen replacement therapy." 08/01/1978 - " In light of this possibility, cyclic estrogen-progestogen therapy might be more appropriate than the traditional estrogen replacement therapy for treatment of cases of gonadal dysgenesis." 06/01/1980 - "Plasma glycoprotein hormone alpha-subunit in the syndrome of gonadal dysgenesis: the effect of estrogen replacement in hypergonadotropic hypogonadism."
3.	Hormone Replacement Therapy (Therapy, Hormone Replacement) 12/01/2011 - "Hormone replacement therapy is mandatory to maintain quality of life and bone mineralization status in patients with gonadal dysgenesis. " 08/01/2000 - "She was confirmed to have complete gonadal dysgenesis at 19 yr of age and was placed on hormone replacement therapy. " 02/01/1994 - "It is concluded that this kind of hormone replacement therapy is efficient and safe for the treatment of amenorrheic adolescents due to gonadal dysgenesis." 04/01/1984 - "Hyperplasia or microadenoma of the pituitary gland frequently occurs secondary to primary hypothyroidism and gonadal dysgenesis, and recognition of these results may eliminate unnecessary surgery in favor of hormone replacement therapy. " 10/01/2009 - "At 19 years old, she was diagnosed with pure gonadal dysgenesis and began hormone replacement therapy and monitoring of tumor markers. "
4.	Ovariectomy (Oophorectomy) 01/01/1992 - "[Bilateral ovariectomy in gonadal dysgenesis with a Y chromosome]." 04/01/1960 - "Comparison of the biological effects of oestrogen on the vaginal cytology in gonadal dysgenesis and after oophorectomy." 06/01/2006 - "The sudden occurrence of menopause resulting from chemotherapy, oophorectomy, radiation, or gonadal dysgenesis frequently results in hot flashes that begin at a younger age and may occur at a greater frequency and intensity than hot flashes associated with natural menopause. " 07/01/1997 - "A great number of situations do not pose any problem with regard to this principles: gonadal dysgenesis, premature ovarian failure, ovariectomy, castration following chimiotherapy or radiotherapy. " 01/01/1977 - " There were 12 normal women, 2 women who had had surgical oophorectomy, 2 who were taking combined hormonal contraceptives, 1 with amenorrhea following pelvic irradiation, 1 with gonadal dysgenesis, and 2 with anorexia nervosa. "
5.	Drug Therapy (Chemotherapy) 06/01/1987 - "Metastatic germ cell tumour associated with XY gonadal dysgenesis: successful chemotherapy. " 06/01/2006 - "The sudden occurrence of menopause resulting from chemotherapy, oophorectomy, radiation, or gonadal dysgenesis frequently results in hot flashes that begin at a younger age and may occur at a greater frequency and intensity than hot flashes associated with natural menopause. " 09/01/2010 - "Such conditions as hypothalamic-pituitary insufficiency (functional hypothalamic amenorrhea, anorexia nervosa, Kallmann syndrome, hyperprolactinemia), ovarian failure (gonadal dysgenesis, premature ovarian failure) and iatrogenic treatment (surgery, chemotherapy, radiotherapy) can cause hypoestrogenism. " 01/01/1985 - "Elevated serum gonadotropin levels direct further evaluation toward etiologies of gonadal failure, including gonadal dysgenesis, Klinefelter syndrome, and chemotherapy/irradiation damage. "