Cushing's disease associated with ovarian dysgenesis

Gelfand, R

doi:10.1016/0002-9343(84)90197-9

Cited by 5 publications

(2 citation statements)

References 11 publications

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“…Pituitary adenomas have also rarely been identified in TS patients. Review of the literature demonstrated nine case reports of women with TS who presented with pituitary adenomas during late adolescence or adulthood; six were diagnosed with functioning pituitary adenoma and three with non-functioning pituitary adenoma as in our case [8,[18][19][20][21][22][23][24][25] (Table 2). Non-functioning pituitary adenomas in children and adolescents are rare; they comprise only 4 to 6% of pediatric patients, while they account for approximately 33 to 50% of adult patients with pituitary lesions [26][27][28].…”

Section: Discussionmentioning

confidence: 99%

Coexistence of Growth Hormone Deficiency and Pituitary Microadenoma in a Child with Unique Mosaic Turner Syndrome: A Case Report and Literature Review

Park

Kim

et al. 2020

Diagnostics

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Turner syndrome (TS) is a genetic disorder with phenotypic heterogeneity caused by the monosomy or structural abnormalities of the X chromosome, and it has a prevalence of about 1/2500 females live birth. The variable clinical features of TS include short stature, gonadal failure, and skeletal dysplasia. The association with growth hormone (GH) deficiency or other hypopituitarism in TS is extremely rare, with only a few case reports published in the literature. Here, we report the first case of a patient with mosaic TS with complete GH deficiency and pituitary microadenoma, and we include the literature review. During the work-up of the patient for severe short stature, three GH provocation tests revealed peak GH levels of less than 5 ng/mL, which was compatible with complete GH deficiency. Sella magnetic resonance imaging showed an 8 mm non-enhancing pituitary adenoma with mild superior displacement of the optic chiasm. Karyotyping revealed the presence of ring chromosome X and monosomy X (46,X,r(X)/45,X/46,X,psu dic r(X;X)), which indicated a mosaic TS. It is important to consider not only chromosome analyses in females with short stature, but also the possibility of the coexistence of complete GH deficiency accompanying pituitary lesions in TS. In conclusion, the present study reports the first case of GH deficiency and pituitary adenoma in a patient with rare mosaic TS, which extends the genotype–phenotype spectrum for TS.

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Section: Discussionmentioning

confidence: 99%

Coexistence of Growth Hormone Deficiency and Pituitary Microadenoma in a Child with Unique Mosaic Turner Syndrome: A Case Report and Literature Review

Park

Kim

et al. 2020

Diagnostics

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“…Sólo hallamos un caso reportado en la literatura. Se trata de una paciente mujer de 29 años con disgenesia ovárica y un cariotipo para Turner tipo mosaico (45X0/47XXX), se presentó un cuadro fl orido de Enfermedad de Cushing y remitió posterior a una hipofi sectomia trans-esfenoidal 18 . Con respecto al tratamiento quirúrgico se tiene a la resección pituitaria transesfenoidal y la adrenalectomia laparoscópica.…”

Section: Discussionunclassified

Síntomas psicóticos, paranoides y catatónicos como debut de enfermedad de Cushing en una paciente con síndrome de Turner: Reporte de caso y revisión de la litera

2012

Rev. chil. neuro-psiquiatr.

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Turner’s syndrome mosaicism 45X/47XXX: An interesting natural history

Tauchmanovà

Rossi

Pulcrano

et al. 2001

J Endocrinol Invest

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Mosaicism 45X/47XXX is a sporadic form of ovarian dysgenesis. Many of the cases previously described were characterized by a variable phenotype expression. We here report the case of a 33-yr-old woman with recent secondary amenorrhea, weight loss and breast regression. Her menarche had occurred at the age of 11 yr and 6 months and her menstrual cycles had been regular until the age of 28; then, oligomenorrhea and hypertricosis developed. A pelvic ultrasound showed enlarged polycystic-like ovaries and normal uterus. She was treated with ethynil-estradiol and cyproterone acetate for one year. At the age of 31 yr, she underwent a pelvic ultrasound--which revealed normal volume of the ovaries--and hormonal assays including FSH (69 UI/l), LH (113 UI/l), 17beta-estradiol (88 pg/ml), plasma androgens and cortisol levels within normal ranges. No organ-specific autoantibodies toward ovaries, steroid-producing cells or adrenals were found. At the age of 33 yr, there was ultrasound evidence of streak-like ovaries. The patient's height was 145 cm and her weight 45 kg. She had normal female external genitalia, abnormal upper-to-lower body segment ratio, webbed neck, low posterior hair line, cubitus valgus, short and asymmetrical 4th metacarpi, hallux with lateral deviation and moderate scoliosis. No increase in ovarian steroids were found after GnRH-analogue triptorelin (0,1 mg sc) administration. The karyotype analysis on peripheral blood lymphocytes showed a mosaic 45X (90% cells) and 47XXX (10% cells). Diagnostic pelviscopy confirmed streak gonads. Chronic lymphocytic thyroiditis was diagnosed but no cardiovascular or kidney abnormalities were found. A neuro-psychological evaluation revealed emotional and social immaturity, disorders in motorial coordination, visual-spatial organization, as well as reading difficulties and impaired complex phrase construction. The presence of several somatic features of Turner's syndrome, neuro-psychological disorders and an interesting natural history probably depended on the quantitative proportion of 45X to 47XXX cell-lines in different tissues and organs. Estrogen and progestin replacement therapy led to weight gain, re-appearance of secondary sexual characteristics and a mild improvement in mental equilibrium.

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Cushing's disease associated with ovarian dysgenesis

Cited by 5 publications

References 11 publications

Coexistence of Growth Hormone Deficiency and Pituitary Microadenoma in a Child with Unique Mosaic Turner Syndrome: A Case Report and Literature Review

Coexistence of Growth Hormone Deficiency and Pituitary Microadenoma in a Child with Unique Mosaic Turner Syndrome: A Case Report and Literature Review

Síntomas psicóticos, paranoides y catatónicos como debut de enfermedad de Cushing en una paciente con síndrome de Turner: Reporte de caso y revisión de la litera

Turner’s syndrome mosaicism 45X/47XXX: An interesting natural history

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