Deletion of the short arm of the X chromosome: A hereditary form of Turner syndrome

Massa, Guy; Vanderschueren-Lodeweyckx, M

doi:10.1007/bf01954124

Cited by 28 publications

(31 citation statements)

References 13 publications

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“…According to Therman and Susman (22), ovarian dysgenesis was seen in 91 % of patients with 45,X and in 65 % of patients with 46,X,del(Xp). In fact, there have been some reports concerning spontaneous puberty and (15)(16)(17)(20)(21)(22)(23)(24). However, only a few cases have been reported in which Xp deletion was transmitted from a mother to her daughter.…”

Section: Discussionmentioning

confidence: 99%

“…In 1982, they reported another fertile woman with del(X)(p1106) who gave birth to a normal boy after two abortions (16). Massa et al (20) reported 2 pairs of mothers and their daughters with short arm deletion of the X chromosome. The karyotype of the 1st pair was del(X)(p211) and the second had del(X)(p114).…”

Section: Discussionmentioning

confidence: 99%

“…The mother of the proband had menopause at the age of 37 years 7 months. It has been reported that menopause began at 25 years of age in a patient with del(X)(p11.23) (17), and at 35 years (20) and 39 yea r s (21) of ag e in t wo p at ien ts wi th del(X)(Xp211). Women with early menopause (premature ovarian failure) have a shortened period of fertility and are at risk to estrogen deficiency symptoms.…”

Section: Discussionmentioning

confidence: 99%

“…In many of them, their gonadal functions are preserved and there have been some reports dealing with pregnancy and/or delivery among such patients (14)(15)(16)(17)(18)(19)(20)(21).…”

Section: Introductionmentioning

confidence: 99%

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Transmission of Del(X)(p11.2) from Mother to Daughter.

Ogawa¹,

Kamijo

Asai

et al. 2002

Clin Pediatr Endocrinol

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Abstract. We report here a girl (the proband) and her mother with del(X)(p11.2) showing few somatic stigmata of the typical Turner syndrome. The proband exhibited short stature, cubitus valgus, short 4th metacarpal, multiple pigmented nevi and epicanthal fold, while her mother exhibited short stature, cubitus valgus, and short 4th metacarpal. Pubertal changes occurred in both of them. The mother had menarche at 12 years and menopause at 37 years 7 months, indicating premature ovarian failure. The grandmother of the proband had cubitus valgus but normal karyotype. There were many patients with thyroid disease on both their paternal and maternal sides. The proband and her mother had overt hypothyroidism, compensated hypothyroidism, and euthyrodism respectively, though all of them showed positive antithyroid antibodies. In Turner patients with del(Xp), there are many important issues, including determination of the loci of some genes on the X chromosome and genetic counseling.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…In many of them, their gonadal functions are preserved and there have been some reports dealing with pregnancy and/or delivery among such patients (14)(15)(16)(17)(18)(19)(20)(21).…”

Section: Introductionmentioning

confidence: 99%

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Transmission of Del(X)(p11.2) from Mother to Daughter.

Ogawa¹,

Kamijo

Asai

et al. 2002

Clin Pediatr Endocrinol

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“…The first cases of hereditary TS in women with different Xp deletions were published more than three decades ago [2,3]. As a result of this knowledge, the karyotyping of mothers of girls with Xp deletion has been recommended [4], which has led to the identification of additional cases of familial TS [5,6,7,8]. However, the transmission of TS in more than two sequential generations has rarely been reported [9].…”

Section: Introductionmentioning

confidence: 99%

A Rare Variant of Turner Syndrome in Four Sequential Generations: Effect of the Interplay of Growth Hormone Treatment and Estrogens on Body Proportion

Stoklasova

Kaprova²,

Trková³

et al. 2016

Horm Res Paediatr

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Background: Terminal Xp deletion leads to SHOX haploinsufficiency, and when it exceeds Xp22.33 it causes a variant of Turner syndrome (TS) in which gonadal function is preserved and short stature constitutes the major clinical feature. Case Report: We present a family with vertical transmission of TS that affected six women in four sequential generations. The karyotype was defined as a combination of terminal Xp deletion and terminal Xq duplication: 46,X,rec(X)inv(p21.1q27.3). All affected women had short stature, but had developed spontaneous puberty and normal fertility. Generation IV exclusively received recombinant human growth hormone (rhGH). We investigated the effect of rhGH treatment on skeletal growth and body proportion via the comparison of auxological data from an untreated 39.7-year-old mother to her 14.8-year-old rhGH-treated daughter. The adult height of the daughter was substantially better than that of the mother [160.3 cm (-0.8 SDS) and 150.0 cm (-2.7 SDS), respectively]; however, the disproportion progressed following rhGH treatment and ultimately led to a worse trunk-to-extremities ratio compared with the mother (4.8 and 3.7 SDS, respectively). Conclusion: This rare family confirms the vertical transmission of TS spanning multiple generations. The combination of endogenous estrogen production and exogenous rhGH administration in women with SHOX haploinsufficiency may worsen their body disproportion.

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Ovarian differentiation and gonadal failure

Simpson

Rajkovic²

1999

Am. J. Med. Genet.

232

139

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Ovarian failure can result from several different genetic mechanisms-X chromosomal abnormalities, autosomal recessive genes causing various types of XX gonadal dysgenesis, and autosomal dominant genes. The number and precise location of loci on the X are still under investigation, but it is clear that, in aggregate, these genes are responsible for ovarian maintenance, given that monosomy X shows germ cells that undergo accelerated atresia. Despite recent hypotheses, at present there is no evidence for a gene directing primary ovarian differentiation; this process may be constitutive. Phenotypic/karyotypic correlation and limited molecular confirmation have long shown that proximal Xp and proximal Xq contain regions of the most importance to ovarian maintenance. Terminal deletions at Xp11 result in 50% primary amenorrhea and 50% premature ovarian failure or fertility. Deletions at Xq13 usually produce primary amenorrhea. Terminal deletions nearer the telomeres on either Xp of Xq bring about premature ovarian failure more often than complete ovarian failure. The X-linked zinc finger gene (ZFX) and diaphanous 2 Drosophila homologue (DIAPH2) are the only candidate genes for ovarian maintenance that map to the X chromosome. Additional, as yet unidentified, genes along the X chromosome must be involved. The search for these genes in humans is hampered by the lack of candidate genes that map to the X chromosome, the scarcity of patients with fortuitous autosomal translocations, and small pedigrees, which hinder mapping of the loci. In addition, difficulties with human germ cell research also make it challenging to dissect genes important to ovarian development. Autosomal genes also are involved in ovarian differentiation and gonadal failure. Follicle-stimulating hormone receptor and ataxia telangiectasia are examples of autosomal genes known to cause human ovarian failure. Transgenic mouse models point to many other candidate autosomal genes, and sequencing of the human homologues in affected women should lead to the discovery of new genes responsible for human ovarian failure. Identification, functional analysis, and mapping of novel genes specifically expressed in the ovary of mice and women eventually should lead to fruitful dissection of essential genes in mammalian ovarian development and maintenance.

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Deletion of the short arm of the X chromosome: A hereditary form of Turner syndrome

Cited by 28 publications

References 13 publications

Transmission of Del(X)(p11.2) from Mother to Daughter.

Transmission of Del(X)(p11.2) from Mother to Daughter.

A Rare Variant of Turner Syndrome in Four Sequential Generations: Effect of the Interplay of Growth Hormone Treatment and Estrogens on Body Proportion

Ovarian differentiation and gonadal failure

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