Neuropathy in paediatric type 1 diabetes mellitus - clinical characterization and analysis of risk factors in the diabetes prospective follow-up registry DPV (Diabetes-Patienten-Verlaufsdokumentation)-registry.

Objectives: Data on the prevalence, clinical features and risk factors associated with paediatric diabetic neuropathy (DN) are scarce.

Methods: We retrospectively analysed data from the DPV registry, including patients under 20 years of age, treated for type 1 diabetes mellitus (T1D) between 2005 and 2021. Patients with non-diabetic neuropathy were excluded.

Sex chromosome DSD individuals with mosaic 45,X0 and aberrant Y chromosomes in 46,XY cells: distinct gender phenotypes and germ cell tumour risks.

")," individuals with rearranged Y chromosome breaks in their 46,XY cells are reported with male and female gender phenotypes and differences in germ cell tumour (GCT) risk. This raised the question of whether male or female gender and GCT risk depends on the site of the break and/or rearrangement of the individual´s Y chromosome. In this paper, we report molecular mapping of the breakpoint on the aberrant Y chromosome of 22 individuals with a 45,X/46,XY karyotype reared with a different gender.

Guanine nucleotide-binding protein α subunit hypofunction in children with short stature and disproportionate shortening of the 4th and 5th metacarpals.

Background: GNAS encodes the α subunit of the stimulatory G protein (Gsα). Maternal inherited Gsα mutations cause pseudohypoparathyroidism type Ia (PHP-Ia), associated with shortening of the 4th and 5th metacarpals.

Aims: Here we investigated the Gsα pathway in short patients with distinct shortening of the 4th and 5th metacarpals.

Mosaic trisomy 15 in a short girl with hemihypotrophy and mental retardation.

We describe a girl with short stature, mild mental retardation, hemihypotrophy, atrial septal defect I, bilateral branchial cleft fistulas and abnormal skin pigmentation. Growth hormone deficiency and other frequent causes of short stature were excluded. Blood karyotype was investigated twice.

Increase of serum leptin after short-term pulsatile GnRH administration in children with delayed puberty.

Objective: Leptin is known to play an important role in pubertal development in humans, probably acting as one permissive factor for the onset of puberty. Leptin serum concentrations change during pubertal development and an initial increase before the onset of puberty has been reported. The underlying mechanism for this increase in leptin levels is unknown.

Short stature in children with an apparently normal male phenotype can be caused by 45,X/46,XY mosaicism and is susceptible to growth hormone treatment.

Unlabelled: Girls with unexplained short stature are routinely screened for the presence of Ullrich-Turner syndrome by clinical examination, laboratory tests, and karyotyping. In this study, we performed chromosomal analysis in boys to explore the role of 45,X/46,XY mosaicism for short stature in males. Short-term effects of growth hormone treatment in male 45,X/46,XY individuals were compared retrospectively to those in female patients.