A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome

Patients with Turner syndrome are generally characterized by having short stature with no secondary sexual characteristics. Some abnormalities, such as webbed neck, renal malformations (>50%) and cardiac defects (10%) are less common. The intelligence of these patients is considered normal. Non-mosaic monosomy X is observed in approximately 45% of postnatal patients with Turner syndrome and the rest of the patients have structural abnormalities or mosaicism involving 46,X,i(Xq), 45,X/46,XX, 45,X and other variants. The phenotype of 45,X/46,X,+mar individuals varies by the genetic continent and degree of the mosaicism. The gene content of the marker chromosome is the most important when correlating the phenotype with the genotype. Here we present an 11-year-old female who was referred for evaluation of her short stature and learning disabilities. Conventional cytogenetic investigation showed a mosaic 45,X/46,X,+mar karyotype. Fluorescence in situ hybridization showed that the marker chromosome originated from the X chromosome within the androgen receptor (AR) and X-inactive specific transcript (XIST) genes. Therefore, it is possible that aberrant activation of the marker chromosome, compromising the AR and XIST genes, may modify the Turner syndrome phenotype

Type 1 diabetes mellitus associated with autoimmune thyroid disease, celiac disease and familial Mediterranean fever: case report

It is known that type 1 diabetes mellitus (type 1 DM) may be associated with other autoimmune diseases. Recently, a patient with an association of type 1 DM and familial Mediterranean fever (FMF) was reported in the medical literature

The effect of growth hormone treatment on head circumference in growth hormone-deficient children

The aim of this study was to analyze head circumference (HQ growth retrospectively in longitudinally followed growth hormone (GH)-deficient children on GH therapy. Data of 54 (25F, 29M) children with GH deficiency were analyzed by dividing the children into two groups: Group I with height age (HA) 5 yrs (n:36). Anthropometric measurements were expressed as standard deviation score (SDS) for chronological age (CA), and HC was also expressed as SDS for CA and RA. Group 1, with CA 6.6 (2.9) yrs at onset of therapy, showed an increase in height SDS from -3.8(1.4) to -2.4(1.7) (p<0.001) and in HC SDS for CA from -1.9(1.5) to -1.3(1.6) (p<0.05) on 4.8(3.5) yrs of therapy. Group 2, with CA 12.6(2.2) yrs, increased height SDS from -3.4(1.3) to -2.5(1.4) (p<0.001) and HC SDS for CA from -1.2(1.3) to -1.4(1.2) (NS). HC SDS for HA was -0.4(1.3) in Group I and -0.2(1.1) in Group 2 and showed no significant change. When analyzed by quartiles for cumulative dose of GH, HC SDS for HA became 0.08(1.2) in the fourth dosage quartile (p=0.043), not significantly different from the mean. HC is disproportionately small for age but normal for the height. GH treatment results in an increase in HC of the children towards normalization in younger children. An increase in cumulative GH dose is associated with an increase in HC, but this is not inappropriate

Catch-up growth in appropriate- or small-for-gestational age preterm infants.

The aim was to evaluate postnatal growth of preterm infants in childhood and to determine factors that have an effect on catch-up growth (CUG). Ninety-six (42F, 54M) preterm born children with a gestational age of 32.6 +/- 2.9 weeks and birth weight of 1815 +/- 668 g were evaluated at age 4.7 +/- 1.1 years. Preterm children with birth weight and/or length below 10(th) percentile were accepted as small-for-gestational age (SGA) and those above as appropriate-for-gestational age (AGA). Height SDS was similar (-0.5 +/- 1.0) in preterm AGA and SGA children. Both groups had low body mass index (BMI) SDS (-0.6 +/- 1.4 and -1.0 +/- 1.5, respectively). Of the preterm SGA children, 65.8% showed a CUG in height and 3.8% catch- down growth. These rates were 24.6% and 33.5% in preterm AGA children. CUG in height was best explained by birth length and mother's height and CUG in weight by birth weight and mother's weight. In conclusion, although most of the preterm SGA children show CUG, they reach a compromised height in childhood. A number of preterm AGA children show a catch-down growth

Precocious or early puberty in patients with combined pituitary hormone deficiency due to POU1F1 gene mutation: case report and review of possible mechanisms.

Central precocious puberty (CPP) or early puberty (EP) is a rare entity in combined pituitary hormone deficiency (CPHD), the latter caused by mutations in pituitary transcription factor genes. The early onset of puberty in two patients with CPHD with POU1F1 gene mutation was evaluated. A 3-month-old boy was diagnosed with central hypothyroidism, and l-thyroxine was commenced. He was referred for the evaluation of short stature at 20months of age. Anthropometric evaluation revealed severe short stature (-6.1 SDS), and growth hormone (GH) and prolactin deficiencies were diagnosed. Homozygous POU1F1 gene mutation (c.731T>G, p. I244S) was also detected. Testicular enlargement and high luteinizing hormone (LH) levels were observed at 7years and 9months of age while he was on GH and l-thyroxine treatment. Due to rapid progression of puberty, gonadotropin-releasing hormone analogue (GnRHa) was initiated at 11.3years of age. This patient recently turned 19.2years old, and his final height was -2.3 SDS. The second patient, a 6-month-old boy, was also referred for growth retardation. His height was -2.7 SDS, and GH and thyroid-stimulating hormone (TSH) deficiencies were diagnosed. He also had homozygous (c.10C>T, p.Q4*) POU1F1 gene mutation. Onset of puberty was relatively early, at 10years, with advanced bone age. He was on GnRHa treatment between 11.5 and 12.5years of age. Recent evaluation of the patient was at 13.6years of age, and he is still on levothyroxine and GH treatment. The relationship between the POU1F1 genotype and CPP or EP has not as yet been firmly established in humans. Animal studies have revealed that the Pou1f1 gene has a major effect on regulation of GnRH receptor function and the Gata2 gene. It has also been demonstrated that this gene controls gonadotrope evolution and prevents excess gonadotropin levels. Further studies are, however, needed to elucidate the relation between POU1F1 function and CPP

Pelvic ultrasound findings in prepubertal girls with precocious adrenarche born appropriate for gestational age.

BackgroundPrecocious adrenarche (PA) refers to the clinical onset of excess androgen in girls before the age of 8. It is associated with an increased risk of functional ovarian hyperandrogenism after puberty. PA may be associated with polycystic ovary syndrome (PCOS). We compared pelvic ultrasound (US) findings of girls with PA born appropriate for gestational age (AGA) to healthy body mass index (BMI)-matched peers to determine whether US findings in AGA-born PA girls are associated with PCOS antecedents

Adult height in Turkish patients with Turner syndrome without growth hormone treatment

Spontaneous adult height (AH) in Turner syndrome (TS) varies among populations. Population-specific AH data is essential to assess the efficacy of growth-promoting therapies in TS. A multicenter study was performed to establish AH of non-growth hormone (GH)-treated Turkish patients with TS