Clinical Indications for Growth Hormone Therapy.

Growth hormone (GH) is an injectable medication originally used to replace the deficiency of the hormone, but has expanded to treating conditions that may reduce growth and adult height even when the body maintains endogenous GH production. In the United States, there are 8 Food and Drug Administration (FDA)-approved indications for pediatric GH therapy: GH deficiency, Prader-Willi Syndrome, small for gestational age (SGA) without catch-up growth, idiopathic short stature, Turner syndrome, SHOX gene haploinsufficiency, Noonan Syndrome, and chronic renal insufficiency. We characterize the growth patterns and effects of GH treatment in each of these indications. We also review patterns of growth that warrant referral to a pediatric endocrinologist, as well as safety updates. This review is intended to guide practitioners on the initial evaluation and management of patients with short stature, and the indications for GH therapy.

Isocromosomas X: diagnóstico tardío de síndrome de Turner / X Isochromosomes: Delayed diagnosis of Turner's syndrome

El síndrome de Turner se diagnostica mediante la combinación de ciertas características fenotípicas con la ausencia de un cromosoma X. Esta ausencia puede ser total o parcial, como la que tiene lugar en los isocromosomas X. Las consecuencias fenotípicas de estos dependen de 2 factores: la naturaleza de los genes que se han perdido y el porcentaje de células 45, X en los mosaicismos. La clínica cambia en función del patrón citogenético, prevaleciendo la talla baja como manifestación fenotípica, ya que radica en la haploinsuficiencia del gen SHOX en el brazo corto del cromosoma X. Así, cuando existen isocromosomas de los brazos largos, la talla baja siempre está presente. Sin embargo, los rasgos típicos pueden estar ausentes, conllevando retraso diagnóstico. Este hecho se da en nuestras pacientes, y a causa de ello se beneficiarán en menor medida del tratamiento con GH

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

Angiotensin II receptor blockers in pregnancy: a case report and systematic review of the literature.

OBJECTIVE: To describe the case of a woman exposed to angiotensin-II receptor blockers (ARBs) in the preconceptional period and to systematically review the literature on the safety of these drugs when used by pregnant women. METHODS: The case was identified at the Korean Motherisk Program (Seoul). For the systematic review, we searched the PubMed for case reports, case series, and post-marketing surveys. RESULTS: A hypertensive woman was exposed to irbesartan prior to conception. The embryo had delayed development of upper and lower extremities and decreased digital groove. A karyotype identified a 45,XO Turner syndrome. The patient had a spontaneous abortion. Including the case reported here, 64 published cases were identified in total; 57.8% had favorable and 42.2% had unfavorable outcomes. Duration of treatment during pregnancy among women who had adverse fetal outcomes was 26.3 +/- 10.5 weeks (mean +/- SD), compared with 17.3 +/- 11.6 weeks in those who had favorable outcomes (p = 0.04). CONCLUSIONS: Exposure to ARBs for a period longer than the first trimester of pregnancy appears to be associated with a high risk for adverse fetal outcomes.

Paternal alcohol exposure and Turner syndrome.

AIMS: Turner syndrome (TS) is a sex chromosome aneuploidy that occurs as a result of a non-disjunctional error in meiosis I or anaphase lag; however, the aetiology of this disorder remains unknown. Anecdotal evidence suggests that paternal alcoholism may play an unidentified role in the aetiology of TS. Accordingly, the primary objective of this study was to determine the potential association between paternal alcohol exposure and TS. METHODS: The questionnaire was designed to solicit information about the parents' health and lifestyle habits occurring 1 year prior to and throughout the pregnancy of their daughter with TS. Alcohol dependence was assessed by the Brief Michigan Alcohol Screening Test (BMAST). The study population was solicited from the Turner's Syndrome Society of Canada and included any parent(s) having a child with TS who was of any age. Two hundred and twelve families completed and returned the survey. RESULTS: This provided a response rate of 86.5%. Six of the fathers (3.6%; n = 166) and six of the mothers (3.6%; n = 165) had scores of 5 or more on the BMAST (scores of 5+ are considered to be in the 'alcoholic range'). This is considerably lower than the population norm of 9.5%. CONCLUSIONS: Our study has suggested there is no association between paternal or maternal alcohol consumption and TS.

[The induction of chromosome loss and gain by colchicine (author's transl)]. / Die Induktion von Chromosomen- verlust und-gewinn durch Kolchizin.

The fruit fly Drosophila melanogaster is one of the standard systems used for mutagen screening. The colchicine-containing drugs Colchicum-Dispert and Colchysat Burger were fed at extremely low concentrations (1:300 000 and 1:50 000 respectively) to Drosophila females. Among their offspring a remarkably high frequency of aneuploid individuals (XO and XXY flies) were found. These aneuploids correspond karyotypically to the human Ullrich-Turner (XO) and Klinefelter's (XXY) syndromes and result from chromosome loss (XO) and chromosome gain (XXY). The maximum aneuploidy frequency observed after colchicine feeding was 24 times the control value. Depending on their size the aneuploidy frequencies are as great as those obtained by X-irradiation with some hundred or some thousand R.