Ovarian sensitivity to follicle stimulating hormone is blunted in normo- ovulatory women with Down's syndrome

Cento, R. M.; Ragusa, Letizia; Proto, Caterina; Alberti, Antonino; Fiore, Gaetano; Colabucci, F; Lanzone, Antonio

doi:10.1093/humrep/12.8.1709

Cited by 7 publications

(3 citation statements)

References 10 publications

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“…This may be related to reduced oestrogen production. It is established that ovarian function in women with DS is reduced (Cento et al. 1997), and that the age of menopause is lower than in other women with IDs (Seltzer et al.…”

Section: Discussionmentioning

confidence: 99%

Fifteen‐year follow‐up of 92 hospitalized adults with Down’s syndrome: incidence of cognitive decline, its relationship to age and neuropathology

Margallo-Lana

Moore

Kay

et al. 2007

J intellect Disabil Res

109

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Clinical dementia associated with measurable cognitive and functional decline is frequent in people with DS after middle age, and can be readily diagnosed among less severely intellectually disabled persons using measures of cognitive function such as the PCFT and behavioural scales such as the ABS. In the more profoundly disabled people, the diagnosis of dementia is facilitated by the use of behavioural and neurological criteria. In this study, the largest prospective DS series including neuropathology on deceased patients, the density of neurofibrillary tangles related more closely to the dementia of DS than senile plaques. In people with DS surviving to middle and old age, the development of dementia of Alzheimer type is frequent but not inevitable, and some people with DS reach old age without clinical features of dementia.

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Section: Discussionmentioning

confidence: 99%

Fifteen‐year follow‐up of 92 hospitalized adults with Down’s syndrome: incidence of cognitive decline, its relationship to age and neuropathology

Margallo-Lana

Moore

Kay

et al. 2007

J intellect Disabil Res

109

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“…[ 182 ] reported a significantly higher incidence of anovulation and luteal defects in a group of regularly menstruating DS women, while showing reduced estradiol plasma concentrations along the cycle and lower progesterone levels in the mid-luteal phase. In a follow-up study, the authors administered follicle-stimulating hormone (FSH) to a group of normo-ovulatory DS vs. control individuals and found a significant impairment in the ovarian sensitivity to FSH, as measured by estradiol production [ 183 ], and potentially contributing to gonadal disfunction in T21 women [ 184 ]. Alternatively, Angelopoulou et al .…”

Section: Runx1 Beyond Bloodmentioning

confidence: 99%

RUN(X) out of blood: emerging RUNX1 functions beyond hematopoiesis and links to Down syndrome

Rozen,

Ozeroff,

Allen

2023

Hum Genomics

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Background RUNX1 is a transcription factor and a master regulator for the specification of the hematopoietic lineage during embryogenesis and postnatal megakaryopoiesis. Mutations and rearrangements on RUNX1 are key drivers of hematological malignancies. In humans, this gene is localized to the ‘Down syndrome critical region’ of chromosome 21, triplication of which is necessary and sufficient for most phenotypes that characterize Trisomy 21. Main body Individuals with Down syndrome show a higher predisposition to leukemias. Hence, RUNX1 overexpression was initially proposed as a critical player on Down syndrome-associated leukemogenesis. Less is known about the functions of RUNX1 in other tissues and organs, although growing reports show important implications in development or homeostasis of neural tissues, muscle, heart, bone, ovary, or the endothelium, among others. Even less is understood about the consequences on these tissues of RUNX1 gene dosage alterations in the context of Down syndrome. In this review, we summarize the current knowledge on RUNX1 activities outside blood/leukemia, while suggesting for the first time their potential relation to specific Trisomy 21 co-occurring conditions. Conclusion Our concise review on the emerging RUNX1 roles in different tissues outside the hematopoietic context provides a number of well-funded hypotheses that will open new research avenues toward a better understanding of RUNX1-mediated transcription in health and disease, contributing to novel potential diagnostic and therapeutic strategies for Down syndrome-associated conditions.

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“…Several reports have elucidated partial gonadal resistance to gonadotropin stimulation in DS patients, manifested by blunted estradiol secretion in response to FSH stimulation (13) and suppressed testosterone secretion in response to human chorionic gonadotropin stimulation (14,15) in women and men, respectively.…”

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confidence: 99%

β-Adrenergic Hyperresponsiveness in Compensated Hypothyroidism Associated with Down Syndrome

et al. 2005

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Although compensated hypothyroidism (CH) is the most common thyroid impairment in Down syndrome (DS), its pathogenesis remains elusive. Because primary gonadal failure is another DSassociated endocrinopathy, we hypothesized that an impaired signal-transduction pathway shared by several organs may provide a unifying explanation for both endocrinopathies. We assessed two possible transduction-pathway components associated with CH in DS: the G-protein adenylate-cyclase (AC) system and ␤-adrenergic responsiveness, previously reported to be enhanced in DS fibroblasts. Twenty-one DS patients and 14 control subjects were studied. Peripheral mononuclear cells (PMCs) were incubated with G-protein modulators [prostaglandin E1 (PGE1) and cholera toxin (CTx)], an AC stimulator (forskolin), and a ␤-adrenergic agonist (isoproterenol), and cAMP levels were determined. All participants had normal plasma thyroid hormone levels, but 11 of the DS patients had elevated TSH levels (hTSH), whereas in the 10 others, they were normal (nTSH). cAMP levels in response to forskolin, PGE1, and CTx were similar in all groups, whereas isoproterenolstimulated cAMP levels were significantly higher in the hTSH group than in the nTSH group and control subjects (45 Ϯ 30 versus 22 Ϯ 9 and 21 Ϯ 9 pmol · 10 6 cells Ϫ1 · 10 min Ϫ1, respectively; p ϭ 0.02). Four patients in the DS hTSH subgroup had impaired sexual development. We found hyperresponsiveness of PMCs to a ␤-adrenergic agonist in a subgroup of DS patients with CH. If this observation is applicable to the thyroid gland, then it may reflect a mechanism in which negative effects on cell growth or responsiveness to TSH lead to CH. Many studies over the past several decades have found an increased prevalence of various types of thyroid dysfunction in individuals with Down syndrome (DS), including congenital hypothyroidism (1) and thyroid autoimmune disease (2-5). However, the most prevalent thyroid disorder in this population is compensated hypothyroidism (CH), characterized by mildly elevated TSH in the absence of signs of thyroid autoimmunity or clinical hypothyroidism. Its prevalence in DS has been reported to be in the range of 14 to 63% (3,5-8), but its cause remains elusive.A decreased threshold in the pituitary gland to thyroxin in CH, postulated in some studies (3,5), seems unlikely because low-dose thyroxin treatment rapidly brings TSH to normal levels, suggesting that the thyroxin-TSH negative feedback mechanism is preserved (5). Others have suggested the presence of immunologically competent but biologically less active TSH (3,9,10). However, this hypothesis was ruled out recently by Konings et al. (10), who postulated that CH derives from an impaired signal-transduction pathway involved in thyroid hormonogenesis. The presence of hypogonadism in some of our DS patients with CH led us to hypothesize that hypothyroidism is just one aspect of multiple hormone resistance in DS.Gonadal impairment in DS is manifested by hypogonadism with subsequent elevation of LH and FSH levels but with no...

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Ovarian sensitivity to follicle stimulating hormone is blunted in normo- ovulatory women with Down's syndrome

Cited by 7 publications

References 10 publications

Fifteen‐year follow‐up of 92 hospitalized adults with Down’s syndrome: incidence of cognitive decline, its relationship to age and neuropathology

Fifteen‐year follow‐up of 92 hospitalized adults with Down’s syndrome: incidence of cognitive decline, its relationship to age and neuropathology

RUN(X) out of blood: emerging RUNX1 functions beyond hematopoiesis and links to Down syndrome

β-Adrenergic Hyperresponsiveness in Compensated Hypothyroidism Associated with Down Syndrome

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