Basal body temperature curves and endocrine pattern of menstrual cycles in Down syndrome

Cento, R. M.; Ragusa, Letizia; Proto, Caterina; Alberti, Antonino; Romano, Corrado; Boemi, G.; Colabucci, F; Lanzone, Antonio

doi:10.3109/09513599609097904

Cited by 13 publications

(5 citation statements)

References 14 publications

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“…In trisomy 13 and 18, ovarian dysgenesis is severe; in Down syndrome the impairment is variable and usually less marked (Cunniff et al 1991). This is consistent with the observation that, despite ovulatory and luteal defects, reproduction is possible with this condition (Cento et al 1996). This suggests that ovarian development and function may be very delicate processes that could directly or indirectly involve several genes situated on autosomes.…”

Section: Discussionsupporting

confidence: 81%

A history of miscarriages and mild prognathism as possible mode of presentation of mosaic trisomy 18 in women

Satgé

Geneix

et al. 1996

Clinical Genetics

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A 22‐year‐old woman seeking medical assistance for hypofertility after two miscarriages had very slight anomalies: mild macrogenia and prognathism, and temporal depilation. Peripheral lymphocytes and fibroblastic karyotypes disclosed the tenth published case of low‐level mosaicism for trisomy 18 with normal intelligence. Subfertility is frequently observed among these patients. As women with this anomaly are at risk of trisomy 18 pregnancies and as five cases have been reported recently, this particular chromosomal anomaly may not be so exceptional and should be investigated in cases of hypofertility.

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Section: Discussionsupporting

confidence: 81%

A history of miscarriages and mild prognathism as possible mode of presentation of mosaic trisomy 18 in women

Satgé

Geneix

et al. 1996

Clinical Genetics

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“…This apparent protective effect against breast cancer may be explained in part by the hypooestrogeny in DS females from fetal life onwards (34).…”

Section: Discussionmentioning

confidence: 99%

Cancer mortality in Down syndrome in California

Sasco¹,

Day²,

Voirin³

et al. 2008

International Journal on Disability and Human Development

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“…Similarly, elevated gonadotropins in DS are associated with normal levels of sex steroids (11,12), although some degree of gonadal dysfunction is common in this population. In women with DS, menarche may occur at a later age (24), and there is an increased frequency of anovulation or defects in luteal function (25,26). In men with DS, the mean stretched penile length and testicular volume are below normal standards for adults (11,12), with a negative correlation between testicular size and FSH levels (11).…”

Section: Discussionmentioning

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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Basal body temperature curves and endocrine pattern of menstrual cycles in Down syndrome

Cited by 13 publications

References 14 publications

A history of miscarriages and mild prognathism as possible mode of presentation of mosaic trisomy 18 in women

A history of miscarriages and mild prognathism as possible mode of presentation of mosaic trisomy 18 in women

Cancer mortality in Down syndrome in California

β-Adrenergic Hyperresponsiveness in Compensated Hypothyroidism Associated with Down Syndrome

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