15 research outputs found
Estrogen Replacement in Turner Syndrome: Literature Review and Practical Considerations
Context: Most girls with Turner syndrome (TS) have hypergonadotropic hypogonadism and need hormonal replacement for induction of puberty and then for maintaining secondary sex characteristics, attaining peak bone mass, and uterine growth. The optimal estrogen replacement regimen is still being studied. Evidence Acquisition: We conducted a systematic search of PubMed for studies related to TS and puberty. Evidence Synthesis: The goals of replacement are to mimic normal timing and progression of physical and social development while minimizing risks. Treatment should begin at age 11 to 12 years, with dose increases over 2 to 3 years. Initiation with low-dose estradiol (E2) is crucial to preserve growth potential. Delaying estrogen replacement may be deleterious to bone and uterine health. For adults who have undergone pubertal development, we suggest transdermal estrogen and oral progestin and discuss other approaches. We discuss linear growth, lipids, liver function, blood pressure, neurocognition, socialization, and bone and uterine health as related to hormonal replacement. Conclusion: Evidence supports the effectiveness of starting pubertal estrogen replacement with low-dose transdermal E2. When transdermal E2 is unavailable or the patient prefers, evidence supports use of oral micronized E2 or an intramuscular preparation. Only when these are unavailable should ethinyl E2 be prescribed. We recommend against the use of conjugated estrogens. Once progestin is added, many women prefer the ease of use of a pill containing both an estrogen and a progestin. The risks and benefits of different types of preparations, with examples, are discussed
Very short term dehydroepiandrosterone treatment in female adrenal failure: impact on carbohydrate, lipid and protein metabolism.
The Changing Face of Turner Syndrome.
Turner syndrome (TS) is a condition in females missing the second sex chromosome (45,X) or parts thereof. It is considered a rare genetic condition and is associated with a wide range of clinical stigmata, such as short stature, ovarian dysgenesis, delayed puberty and infertility, congenital malformations, endocrine disorders, including a range of autoimmune conditions and type 2 diabetes, and neurocognitive deficits. Morbidity and mortality are clearly increased compared with the general population and the average age at diagnosis is quite delayed. During recent years it has become clear that a multidisciplinary approach is necessary toward the patient with TS. A number of clinical advances has been implemented, and these are reviewed. Our understanding of the genomic architecture of TS is advancing rapidly, and these latest developments are reviewed and discussed. Several candidate genes, genomic pathways and mechanisms, including an altered transcriptome and epigenome, are also presented
Free dissociable insulin-like growth factor I (IGF-I), total IGF-I and their binding proteins in girls with Turner syndrome during long-term growth hormone treatment
Turner syndrome. Relation between genotype and phenotype and long-term follow-up studies.
Turner syndrome (TS) is a chromosomal disorder with a prevalence of
approximately 1/2 500 live female births. There is complete or partial absence of
one of the two sex chromosomes, resulting in a genetic constellation of 45,X
monosomy or 45,X/46,XX mosaic, respectively. In the present studies, using
more accurate analysis with Fluorescence In Situ Hybridization (FISH), we
investigated whether the international classification of the “genotype-phenotype
correlation” should be different. TS women were compared with age-matched
controls from the WHO MONICA study, carried out in Gothenburg, into
cardiovascular risk factors and bone data. Stigmata were counted and balance
and hearing were tested. Mosaics had fewer stigmata, no aortic dissection, were
diagnosed 8 years later, had better balance and fine motor function and fewer
cardiovascular risk factors compared with 45,X monosomy. The 45,X/46,XX
mosaics were, thus, more similar to controls.
Mosaicism mitigated stigmata and the cardiovascular and fracture risk factor
profile in TS.
Hypothyroidism and elevated liver enzymes are common in TS but no
prospective studies have been performed. Thyroid function and liver enzymes
were studied in TS patients during five years. The prevalence of hypothyroidism
was 23% with an annual incidence of 3.2%, and the corresponding figures for
elevated liver enzymes were 36% and 3.4%, respectively. Hypothyroidism was
not associated with karyotype, family history or other metabolic factors but
elevated thyroid peroxidase (TPO) antibodies were found in almost half of the
TS cases with hypothyroidism. The most prevalently increased liver enzyme
was gamma glutamyl transferase (GT) which was correlated with serum
cholesterol, independently of obesity, waist/hip ratio and glucose level, but not
with serum estradiol.
Every third TS woman developed hypothyroidism at five years and those with
elevated TPO were at highest risk. Annual thyroid function control is
mandatory. More than every second TS woman had elevated liver enzymes at
five years. The elevated liver enzymes were benign. Estrogen replacement can
be continued in TS