ABSTRACT
La hipertricosis cubital es un aumento localizado de la densidad, longitud y espesor del vello. Es una entidad benigna con muy escasos pacientes descritos en la literatura médica (alrededor de medio centenar). La mitad de los casos descritos asocian otros defectos o malformaciones, y la otra mitad son problemas puramente estéticos. La pubarquia precoz en niñas se define como el inicio del vello púbico antes de los 8 años de edad. Se presenta a una paciente de 6 años con la asociación no descrita previamente de hipertricosis cubital y pubarquia precoz.
Hypertrichosis cubiti is a localized increase in hair density, length and thickness. It is an uncommon and benign entity with very few patients described in the medical literature (more or less than half a hundred). Half of the described patients associate other defects or malformations and the other half are purely aesthetic cases. Early pubarche in girls is defined as the onset of pubic hair before 8 years of age. We present a six-year-old patient with the association not previously described of hypertrichosis cubiti and precocious pubarche.
Subject(s)
Humans , Female , Child , Puberty, Precocious/diagnosis , Growth Disorders/diagnosis , Hypertrichosis/congenital , Puberty, Precocious/pathology , Growth Disorders/pathology , Hypertrichosis/diagnosis , Hypertrichosis/pathologyABSTRACT
This study evaluated the efficacy of a stepwise regimen of estradiol valerate for height control in girls with Marfan syndrome. Eight girls with Marfan syndrome who had completed estrogen treatment for height control were included. Estradiol valerate was started at a dose of 2 mg/day, and then was increased. The projected final height was estimated using the initial height percentile (on a disease-specific growth curve for Korean Marfan syndrome [gcPFHt]), and the initial bone age (baPFHt). After the estrogen treatment, the projected final height was compared to the actual final height (FHt). The median baseline chronological and bone age were 10.0 and 10.5 years, respectively. After a median of 36.5 months of treatment, the median FHt (172.6 cm) was shorter than the median gcPFHt (181.0 cm) and baPFHt (175.9 cm). In the six patients who started treatment before the age of 11 years, the median FHt (171.8 cm) was shorter than the median gcPFHt (181.5 cm) and baPFHt (177.4 cm) after treatment. The median differences between the FHt and gcPFHt and baPFHt were 9.2 and 8.3 cm, respectively. In two patients started treatment after the age of 11, the differences between FHt and gcPFHt, and baPFHt after treatment were -4 and 1.4 cm, and -1.2 and 0 cm for each case, respectively. A stepwise increasing regimen of estradiol valerate may be an effective treatment for height control in girls with Marfan syndrome, especially when started under 11 years old.
Subject(s)
Child , Female , Humans , Body Height , Contraceptive Agents/therapeutic use , Estradiol/analogs & derivatives , Growth Disorders/pathology , Marfan Syndrome/diagnosis , Treatment OutcomeABSTRACT
Presented here is a case of a 8 year old boy with typical clinical manifestations of Acrocallosal syndrome. The characteristic features of this syndrome are craniofacial abnormalities, distinctive digital malformation, mental retardation. The clinical and major nosologic aspects of this condition are discussed.
Subject(s)
Abnormalities, Multiple , Child , Corpus Callosum/abnormalities , Craniofacial Abnormalities/pathology , Fingers/abnormalities , Growth Disorders/pathology , Humans , Male , Intellectual Disability/pathology , Syndrome , Toes/abnormalitiesSubject(s)
Humans , Male , Middle Aged , Growth Disorders , Malabsorption Syndromes/pathology , Pancreatitis, Chronic/pathology , Aging, Premature/pathology , Aging, Premature/physiopathology , Atrophy/pathology , Atrophy/physiopathology , Biopsy, Needle , Diarrhea/etiology , Diarrhea/pathology , Diarrhea/physiopathology , Growth Disorders/pathology , Growth Disorders/physiopathology , Malabsorption Syndromes/physiopathology , Intellectual Disability/pathology , Intellectual Disability/physiopathology , Pancreatitis, Chronic/physiopathology , Pericarditis/pathology , Pericarditis/physiopathology , Renal Insufficiency, Chronic/pathology , Renal Insufficiency, Chronic/physiopathology , Testis/pathology , Werner Syndrome/physiopathologyABSTRACT
Features of leprechaunism, including prenatal and postnatal growth retardation, broad mount, large low-set ears, clubbed nose, hirsutism, loose skin were present in two male infants. The parents of both patient are first cousins
Subject(s)
Humans , Male , Growth Disorders/pathology , Fetal Growth Retardation , ConsanguinityABSTRACT
We conclude that recombinant DNA methionine-free hGH treatment of GH-deficient Thai children is very effective in the first year of treatment. No patients reported any side effects or resistance to treatment.