A rare case of Turner′s syndrome presenting with Mullerian agenesis
Journal of Human Reproductive Sciences, 2013 Turner′s syndrome also called as Ullrich Turner′s syndrome, is a disease of unclear pathogenesis characterized by complete or partial absence of one sex chromosome, with or without cell line mosaicism in a phenotypic female with short stature.
Suresh Vaddadi +3 more
doaj +1 more source
Analysis of De Novo HOXA 13 Polyalanine Expansions Supports Replication Slippage Without Repair in Their Generation [PDF]
, 2013 Polyalanine repeat expansion diseases are hypothesized to result from unequal chromosomal recombination, yet mechanistic studies are lacking. We identified two de novo cases of hand‐foot‐genital syndrome (HFGS) associated with polyalanine expansions in ...
Innis, Jeffrey W. +8 more
core +1 more source
Growth Standards for Children With Smith–Magenis Syndrome (SMS)
American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 569-578, March 2026.ABSTRACT Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 (RAI1) gene either by a pathogenic sequence variant or deletion at chromosome 17p11.2 involving a portion or all of this gene.
Julie Hoover‐Fong +10 more
wiley +1 more source
Growth hormone treatment inTurner syndrome: data and reflections [PDF]
, 2008 Short stature is the major characteristic of Turner syndrome. The statural appeal is premature and become evident in the puberty. Haploinsuficiency of SHOX gene has been related as main factor on final height of these patients.
Bianco, Bianca Alves Vieira +5 more
core +2 more sources
Why could a woman have three Trisomy 21 pregnancies? – a case report
Clinical Case Reports, 2017 Key Clinical Message Mosaicism, an important cause for recurrent T21, should be suspected in families with more than one affected child wishing to receive prenatal counseling.
Magda Magalhães +7 more
doaj +1 more source
Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. [PDF]
, 2014 Seizures are clinically significant manifestations associated with 79%-90% of patients with tuberous sclerosis complex. Often occurring within the first year of life in the form of infantile spasms, seizures interfere with neuropsychiatric, social, and ...
Fallah, Aria, Wang, Shelly
core +2 more sources
45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study
São Paulo Medical JournalCONTEXT AND OBJECTIVE: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism.DESIGN ...
Rafael Fabiano Machado Rosa +7 more
doaj +1 more source
Characterization of Spontaneous and Induced Puberty in Girls with Turner Syndrome [PDF]
, 2017 OBJECTIVE: To characterize puberty in girls with Turner syndrome (TS) and determine whether specific patient characteristics are associated with the timing of menarche.
Eugster, Erica A. +3 more
core +1 more source
Pseudohermafroditismo masculino disgenético.
Acta Médica Portuguesa, 2001 Dysgenetic male pseudohermaphroditism is the result of a defect of testis development that encompasses a large clinical heterogeneity. It is characterized by bilateral dysgenetic testis, absence of mullerian regression, ambiguous genitalia and/or ...
E Proença +4 more
doaj +1 more source
Screening of endocrine organ-specific humoral autoimmunity in 47,XXY Klinefelter's syndrome reveals a significant increase in diabetes-specific immunoreactivity in comparison with healthy control men. [PDF]
, 2015 The aim of this study was to evaluate the frequency of humoral endocrine organ-specific autoimmunity in 47,XXY Klinefelter’s syndrome (KS) by investigating the autoantibody profile specific to type 1 diabetes (T1DM), Addison’s disease (AD), Hashimoto ...
ANZUINI, Antonella +7 more
core +1 more source