Bilateral Gonadoblastoma Producing Steroid Hormones in a Patient with 45, X/46, XY Gonadal Dysgenesis

Fukamatsu, Y; Tsukahara, Yoshiharu; Hayashi, Seiichi; Yoshikawa, Fumihiko; Fukuta, Toru

doi:10.1159/000293266

Cited by 14 publications

(10 citation statements)

References 2 publications

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“…In fact, the serum concentrations of estradiol and testosterone corresponded with the clinical findings. These observations are in agreement with reports in the literature (Kauf and Hesse, 1989;Fukamatsu et al, 1990;Petersen et al, 1992;Sadi et al, 1996;Lange et al, 1998). However, Liu et al (1995) reported on a patient with high estrogen and low (female) testosterone levels.…”

Section: Articlesupporting

confidence: 93%

“…Commonly, gonadoblastomas are diagnosed in young adolescents, like in the present cases (Scully, 1970;Fukamatsu et al, 1990;Chen et al, 1991;Petersen et al, 1992;Barbosa et al, 1995;Liu et al, 1995;Sadi et al, 1996;Lange et al, 1998), but they may occur as early as during infancy or preschool age (Dumic et al, 1993;Hong et al, 1995;Alikasifoglu et al, 1996;McDonald et al, 1997;Slowikowska-Hilczer et al 2001;2003). Some gonadoblastomas are associated with testicular intraepithelial neoplasia or even malignant tumors.…”

Section: Articlementioning

confidence: 61%

“…In the majority of the cases that tumor represents a germinoma (dysgerminoma and seminoma, respectively) (Scully, 1953;Scully, 1970). The tumors almost always arise in a dysgenetic gonad carrying an Y-chromosome (Scully, 1970;Lukusa et al, 1991;Rutgers, 1991;Berkovitz et al, 1991;Slowikowska-Hilczer et al, 2001;2003) or in patients with chromosomal mosaicism and other chromosomal aberrations (Fukamatsu et al, 1990; Barbosa et al, 1995;Hong et al, 1995;Obata et al 1995;Hussong et al, 1997;McDonald et al, 1997;Iezzoni et al, 1997). Here, we report clinical, endocrinological, and immunohistochemical findings in five patients with 46,XY gonadal dysgenesis who had developed gonadoblastomas.…”

Section: Introductionmentioning

confidence: 99%

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Gonadoblastomas in 5 Patients with 46,XY Gonadal Dysgenesis

Hoepffner¹,

Horn²,

Simon³

et al. 2005

Exp Clin Endocrinol Diabetes

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We describe five patients with 46,XY gonadal dysgenesis who developed gonadoblastomas, dysgerminomas, a mature teratoma, and a testicular intraepithelial neoplasia. The age of the patients was between 12.2 and 18.5 years. The external genitalia were normal female in two cases, in three they were intersexual. Four of our patients presented with slight retardation of puberty followed by stagnation. Most importantly the development of the breast (Tanner stage 2-4) did not correspond with pubic hair stage (Tanner stage 4). The patients can be classified as virilized phenotypical females. Serum testosterone was detectable in three, estradiol in two patients. None of the gonadoblastomas showed immunoreactivity with antibodies against steroid hormone receptors and against testosterone and estradiol, respectively. Probably the immature cells are able to produce steroid hormones. Only steroid-like cells with Leydig cell appearance showed positive cytoplasmatic immunostaining for testosterone in three patients. The findings in our patients underline that dysgenetic gonads must be removed as early as possible to prevent development of malignant tumors.

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Section: Articlesupporting

confidence: 93%

Section: Articlementioning

confidence: 61%

Section: Introductionmentioning

confidence: 99%

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Gonadoblastomas in 5 Patients with 46,XY Gonadal Dysgenesis

Hoepffner¹,

Horn²,

Simon³

et al. 2005

Exp Clin Endocrinol Diabetes

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“…Normal estrogen levels in patients with gonadal dysgenesis were hypothetically attributed to several mechanisms including i) production of estrogens by streak gonads at the time of puberty, ii) peripheral conversion of androgens to estrogens and iii) increased sensitivity of breast tissue to estrogens ( 4 , 8 , 13 , 14 ). Additionally, it has been reported that both male and female sex steroids may have been produced by gonadoblastoma ( 15 ) and that gonadoblastoma is often the source of hormones in females with the 46,XY karyotype ( 10 , 16 ). Joki-Erkkilä et al ( 17 ) reported sexual maturation in a 16-year-old adolescent girl with 46,XY karyotype and gonadoblastoma present in the dysgenetic gonads.…”

Section: Discussionmentioning

confidence: 99%

An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation

Çatlı¹,

Alparslan²,

Can³

et al. 2015

Jcrpe

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46,XY pure gonadal dysgenesis (Swyer syndrome) is characterized by normal female genitalia at birth. It usually first becomes apparent in adolescence with delayed puberty and amenorrhea. Rarely, patients can present with spontaneous breast development and/or menstruation. A fifteen-year-old girl presented to our clinic with the complaint of primary amenorrhea. On physical examination, her external genitals were completely female. Breast development and pubic hair were compatible with Tanner stage V. Hormonal evaluation revealed a hypergonadotropic state despite a normal estrogen level. Chromosome analysis revealed a 46,XY karyotype. Pelvic ultrasonography showed small gonads and a normal sized uterus for age. SRY gene expression was confirmed by multiplex polymerase chain reaction. Direct sequencing on genomic DNA did not reveal a mutation in the SRY, SF1 and WT1 genes. After the diagnosis of Swyer syndrome was made, the patient started to have spontaneous menstrual cycles and therefore failed to attend her follow-up visits. After nine months, the patient underwent diagnostic laparoscopy. Frozen examination of multiple biopsies from gonad tissues revealed gonadoblastoma. With this report, we emphasize the importance of performing karyotype analysis, which is diagnostic for Swyer syndrome, in all cases with primary or secondary amenorrhea even in the presence of normal breast development. We also suggest that normal pubertal development in patients with Swyer syndrome may be associated with the presence of a hormonally active tumor.

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“…It is possible that oestradiol was secreted by the incipient gonadoblastoma, even though this tumour is rare at the age of 5 years. Both male and female sex steroids may have been produced by the tumour, an occurrence that has been reported in the literature [9]. The adrenal gland was ruled out as a source of androgens.…”

Section: Discussionmentioning

confidence: 88%

Mixed Gonadal Dysgenesis and Precocious Puberty

Iliev

Ranke²,

Wollmann³

2002

Horm Res Paediatr

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A girl aged 5 years and 6 months presented with premature thelarche in our outpatient clinic. During long-term observation, we recorded growth acceleration, advanced bone age, and elevated oestradiol levels which together were taken to confirm the diagnosis of precocious puberty. The patient was successfully treated with a gonadotropin-releasing hormone agonist, but in view of the poor growth prognosis, recombinant human growth hormone was administered concurrently. At the age of 9 years and 6 months a mild clitoris enlargement and conspicuous muscle development without any further signs of virilization were noticed. Laboratory findings showed high values for testosterone and normal basal values for 17-hydroxyprogesterone and dehydroepinadrosterone sulphate. Explorative laparotomy revealed a gonadoblastoma arising from testicular structures on the left, a female streak gonad on the right side, and normal uterus and fallopian tubes. The karyotype was 46,XY/45,X. These findings confirmed the diagnosis of mixed gonadal dysgenesis with testosterone-producing gonadoblastoma.

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Bilateral Gonadoblastoma Producing Steroid Hormones in a Patient with 45, X/46, XY Gonadal Dysgenesis

Cited by 14 publications

References 2 publications

Gonadoblastomas in 5 Patients with 46,XY Gonadal Dysgenesis

Gonadoblastomas in 5 Patients with 46,XY Gonadal Dysgenesis

An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation

Mixed Gonadal Dysgenesis and Precocious Puberty

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