[X isochromosomes: delayed diagnosis of Turner's syndrome]. / Isocromosomas X: diagnóstico tardío de síndrome de Turner.

Turner syndrome is diagnosed by the combination of certain phenotypic characteristics with the absence of one of the X chromosome. This absence may be total or partial, as occurs in isochromosomes Xq. The phenotypic consequences of these depend on two factors: the characteristics of the lost genes and the percentage of cells 45, X in mosaicisms. The clinical features also change with the cytogenetic pattern. Short stature is the most common phenotypic manifestation, as it is due to the haploinsufficiency of the SHOX gene on the short arm of X chromosomes. Thus, when there is isochromosomes on the long arms, short stature is always present. However, the typical features of this syndrome could be absent, and the diagnosis can be delayed. This occurred in our patients, who will not be able to obtain optimum benefits with growth hormone treatment.

[Gene as a cause of adrenal hypoplasia, hypogonadism and short height novel mutation of DAX-1 gene (pGly168fsX17)]. / Hipoplasia adrenal, hipogonadismo y talla baja por una nueva mutación del gen DAX-1 (pGly168fsX17).

Various genes play a role in the morphogenesis of the adrenal cortex, among them the DAX-1 gene. We report an 18-year-old man who showed complete adrenal failure in the neonatal period, hypogonadotropic hypogonadism and pathological short stature associated with a mutation of the DAX-1 gene that has not previously been described. The patient was admitted to hospital at the age of 16 days due to salt-losing syndrome with hyperpotassemia. After this episode, he received no treatment for 2 years, when he began to show progressive anorexia, salt avidity, asthenia, cutaneous hyperpigmentation and finally shock, with hypoglycemia, hyponatremia, metabolic acidosis and hyperpotassemia. Puberal development was spontaneous but incomplete. The patient received treatment with testosterone-depot. He reached a definitive testicular volume of 6 ml and pubarche V. His final height is 150 cm (target height 164 cm). Amplification of the DAX-1 gene showed mutation g 2080-2081 insertion in the first position of codon 168, which produces a premature shutdown of protein DAX-1 at position 184.

[Analysis of puberal development and influence of weight loss in obese adolescent girls]. / Análisis e influencia de la pérdida de peso en el desarrollo puberal de adolescentes obesas.

OBJECTIVES: To study several aspects of puberal development in obese adolescent girls, and the influence of weight loss on these aspects. METHODS: A longitudinal retrospective study was performed of a sample of 26 adolescent girls with normal weight and 46 obese adolescent girls at the onset of puberty. The obese teenagers were further divided into two groups (normal and obese) according to their body mass index (BMI) at the end of puberty. Height, chronological and bone age, and growth velocity were evaluated in both groups. RESULTS: Of the teenagers who were obese at the onset of puberty, 63 % remained obese at the end of puberty. The obese teenagers were significantly taller than non-obese teenagers at the onset of puberty (143.2 +/- 6.96 vs 138.9 +/- 5.95 cm, respectively; p < 0.01). However, there were no differences between the two groups in final height. No differences were found between obese teenagers who lost weight and those who did not. There were no differences in chronological or bone age throughout puberal development in any of the groups. The mean growth velocity during puberty was significantly lower in obese teenagers than in non-obese teenagers (6.18 +/- 1.94 and 6.90 +/- 127 cm/year, respectively; p < 0.02). However, there were no differences between obese teenagers who lost weight and those who did not. CONCLUSIONS: Height gain in obese girls is greater in childhood but lower in adolescence. Final height is similar in both groups. Chronological age at the onset and end of puberty and bone maturation are similar in both groups. Weight loss during puberty does not modify growth pattern during this period of development.

[Longitudinal and retrospective study of aspects of pubertal development in women with primary congenital hypothyroidism]. / Estudio longitudinal y retrospectivo del desarrollo puberal en mujeres con hipotiroidismo congénito primario.

OBJECTIVE: To study the relationship between certain aspects of puberal development in a group of women with primary congenital hypothyroidism diagnosed before the introduction of neonatal screening programs and in a control group of healthy women. PATIENTS AND MEASUREMENTS: Longitudinal retrospective study of 15 women with primary congenital hypothyroidism and 26 healthy women. Height, chronological and bone age, and growth velocity are expressed in centimeters and centimeters per year, respectively. Bone age was analyzed by the Greulich and Pyle atlas. Bone and chronological age are expressed in decimal year. Statistical data were expressed as the means and as the maximum and minimum standard deviations. The Student-Fisher t-test was used to compare the two groups. RESULTS: 1. Evolution of mean height measurements in the hypothyroid and control group respectively were as follows: 154.565.11 and 156.465.28 for genetic height; 140.065.21 and 138.965.95 in tanner's B2, and 153.763.32 and 155.065.93 at menarche. Final height was 157.863.71 and 158.965.95. The difference between final and genetic height was 3.2564.17 and 2.1664.18. The increase in height after menarche was 4.1261.61 and 3.9261.81. The total increase in height during puberty was 17.7464.32 and 20.4665.30. The percentage of height reached during puberty compared with final height was 11.2462.70 and 12.8263.18. 2. Evolution of mean chronological age was respectively: 11.5761.01 and 10.7561.36 in tanner's B2 P=0.05); 13.48+/-0.88 and 13.18+/-1.12 at menarche, and 16.25+/-1.33 and 14.91+/-1.12 at reaching final height (p=0.01). Time between Tanner's B2and B3, B3and B4and B2and B4were 0.61+/-0.23and 0.98+/-0.60 (p=0.01), 0.71+/-0.33and 0.70+/-0.33, 1.32+/-0.51 and1.65+/-0.70. Time between B2and menarche was 1.92+/-0.55 and 2.46+/-1.05(p=0.05) and between menarche and final height was 2.89+/-1.04 and 1.70+/-0.63 (p=0.001). 3. Evolution of mean bone age measurements was respectively: 10.57+/-1.51 and 10.67+/-1.26 in Tanner's B2, and 13.600.97 and 13.27+/-0.65 at menarche. Development of bone age between Tanner's B2 and B3, B3 and B4 and B2and B4was 1.02,0.60 and 0.91,0.65, 1.12,0.76and 0.96+/-0.59, and 2.13+/-1.29 and 1.74+/-1.04, respectively, and between B2 and menarche it was 3.17+/-1.25 and 2.66+/-1.38.4. Mean growth velocity in real time elapsed between different intervals and in centimeters per year was as follows: between B2 and B3:.05+/-2.09, 5.75+/-2.80 and 8.40+/-1.80, 6.24+/-1.74(p=0.01); between B3 and B4: 4.74+/-1.54, 4.97+/-2.82 and 7.31+/-2.14, 7.14+/-1.68; between B2 and B4: 7.40+/-3.70,0.90+/-4.13 and 7.40+/-2.18, 6.75+/-1.34 and between B2and menarche: 13.62+/-4.41, 15.96+/-5.42and 7.20+/-1.57, 6.90+/-1.27 respectively. CONCLUSIONS: In women with hyperthyroidism puberty was normal, except that onset was delayed, development was faster and the postmenarche growth period was longer than in the control group. Bone maturation and growth velocity were similar in both groups, and both of them reached a normal final height compared with their target height.