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Biomedical subjects

Paul Saenger

Publications and source records attributed to Paul Saenger.

14 recordsLinked to original sources
PubMed2006

Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature.

BACKGROUND/AIM: It is known that haploinsufficiency for the SHOX gene (short-stature homeobox gene on the X chromosome) is responsible for short stature in Turner syndrome and Leri-Weill dyschondrogenesis, and it has been reported that it is responsible for upwards of 1 in 50 cases of idiopathic short stature. SHOX haploinsufficiency is also associated with various radiographic abnormalities, such as coarse trabecular pattern, short metacarpals/metatarsals with metaphyseal flaring, altered osseous alignment at the wrist, radial/tibial bowing, triangularization of the radial head, abnormal tuberosity of the humerus, and an abnormal femoral neck. Shortening and bowing of the radius and dorsal dislocation of the distal ulna characterize the Madelung deformity. These characteristic findings led us to do a study assessing the predictive value of certain radiographic features in association with genetic markers of idiopathic short stature. METHODS: Here we describe a case of a Hispanic male with idiopathic short stature and Madelung deformity with a novel mutation in the SHOX gene. RESULTS: Additional studies revealed a strong family history of short stature and the same SHOX mutation segregating from the mother. CONCLUSION: This case resulted in the description of a novel mutation in exon 5 (M202delA) and suggests the importance of screening for SHOX mutations in patients with idiopathic short stature with subtle radiographic abnormalities, including the components of the Madelung deformity in their bone age films.

Adolescent↗
PubMed2006

Prediction models for insulin resistance in girls with premature adrenarche. The premature adrenarche insulin resistance score: PAIR score.

AIM: The purpose of this study was to develop an accurate regression model to predict insulin resistance in girls with premature adrenarche. METHODS: The insulin sensitivity index was calculated from the frequently sampled intravenous glucose tolerance test with tolbutamide. Thirty-five prepubertal girls (23 Caribbean-Hispanic and 12 African-American; mean age 6.8 years) were studied. The insulin sensitivity index was compared to birth weight, body mass index (BMI), the presence of acanthosis nigricans (AN), insulin-like growth factor 1, insulin-like growth factor binding protein 1, sex hormone binding globulin, lipid profile, and adrenocorticotropic hormone stimulated androgens. RESULTS: The best prediction models included birth weight, BMI, and AN (model 1: R(2) = 0.78) and BMI, AN, and serum 17-OH pregnenolone (model 2: R(2) = 0.76). When viewed as screening tests, a cutoff value <5.5 (premature adrenarche insulin resistance score) in both equations showed a sensitivity of 100% and a specificity of 85%. CONCLUSION: Born small for gestational age, premature adrenarche, obesity, AN, and higher serum 17-OH pregnenolone levels may confer negative, but independent, health risks.

Acanthosis Nigricans↗
PubMed2006

Jewish pediatricians in Nazi Germany: victims of persecution.

The plight and fate of German Jewish pediatricians during the Nazi period in Europe has not received much attention, yet the narratives of the victims still resonate today and they deserve to be remembered. The stories of two women serve as examples of the fateful turns taken by the lives of many German Jewish pediatricians between 1933 and 1945. The two women, Dr. Luci Adelsberger and Dr. Lilli Jahn, illustrate both the ordeals endured and the disparate ways the Nazi policies ultimately spared or ended lives.

Concentration Camps↗
PubMed2004

Transition in Turner's syndrome.

Management of the chromosomal condition Turner's syndrome requires consistent medical care, especially during the time when affected girls transition from childhood into adulthood. The medical problems that first develop during childhood of a patient with Turner's syndrome such as congenital heart disease, hearing loss, skeletal problems and dental and ophthalmological abnormalities, should be followed into adulthood. Providing the necessary continuum of care will require that medical centers develop teams with the appropriate expertise in treatment of Turner's syndrome. Now more than ever patients with Turner's syndrome have the capability of achieving their full potential, but it requires a multidisciplinary approach toward care throughout their lifetime.

Adolescent↗
PubMed2003

Dose effects of growth hormone during puberty.

During puberty, the production rate of growth hormone (GH) doubles and is associated with an increase in growth velocity. A significant percentage of the final adult height is attained during puberty, then after puberty, the production rate of GH decreases with age. In children with GH deficiency, it is known that the dosage of GH, in addition to the duration of treatment, can greatly influence the final adult height. At present, the dosage of GH given to children of short stature is kept at a constant rate throughout puberty. Thus, a study was conducted to investigate the effects of a higher dose of GH given to GH-deficient children during puberty. In this article, the design and results of the investigation and the importance of the findings will be discussed.

Adolescent↗
PubMed2003

Presentation and 5-year follow-up of type 2 diabetes mellitus in African-American and Caribbean-Hispanic adolescents.

OBJECTIVE: We report the presentation and 5-year follow-up of 89 African-American (AA) and Caribbean-Hispanic (CH) youths with type 2 diabetes mellitus (T2DM) followed at the Montefiore Medical Center, Bronx, N.Y., USA, from 1990 to 2000. METHODS: The medical records of 89 patients with T2DM diagnosed between 1990 and 2000 were reviewed. RESULTS: Over a 10-year period, the number of pediatric patients less than 18 years of age diagnosed with T2DM at the Montefiore Medical Center increased tenfold. At presentation, the mean age was 14 +/- 2.3 years, the mean body mass index (BMI) was 34.4 +/- 9 kg/m(2), the female/male ratio was 1.6:1, and all these patients were pubertal. Acanthosis nigricans was present in 89% of the patients, polyuria and polydipsia occurred in 48%, weight loss occurred in 22%, and nearly 30% of the patients were asymptomatic at diagnosis. Diabetic ketoacidosis occurred in 5 patients. By 5 years after diagnosis, 45% of the patients were able to maintain an HgbA1C <7% with oral medications (metformin and/or glipizide); 18% required insulin (<0.4 U/kg/day) in addition to oral medications, and 37% did not require any medication. The mean insulin level, BMI and HgbA1C at the time of diagnosis did not predict treatment requirements for 3 years after diagnosis. CONCLUSIONS: Because the incidence of T2DM is increasing in adolescents, the natural history and optimal therapy for adolescents with T2DM need to be established.

Adolescent↗
PubMed2002

Assessing insulin resistance: application of a fasting glucose to insulin ratio in growth hormone-treated children.

BACKGROUND: Insulin resistance (IR) is an important risk factor for cardiovascular disease and type-2 diabetes mellitus. Therefore simple measures of IR have been proposed to screen the at-risk patient. A fasting serum glucose (mg/dl) to plasma insulin (microU/ml) ratio (FGIR) of < 7 was recently suggested as a screening tool for IR in certain pediatric patients. METHODS: To determine the utility of simple indicators of IR, the FGIR of < 7 was applied to a group of patients with established risk for IR. The study group was comprised of non-growth hormone (GH)-deficient patients with Turner syndrome (TS, n = 92) and idiopathic short stature (ISS, n = 73) receiving GH. The occurrence of a FGIR of < 7 in these cohorts was compared to data from previous publications. RESULTS/CONCLUSIONS: The application of a FGIR of < 7 confirmed a rise in IR with GH therapy in both groups as well as a higher occurrence in the TS group, rising from 22 to 48% between 12 and 24 months of GH therapy. We conclude that simple measures of IR such as the FGIR may be useful in screening and following patients at risk for IR.

Adolescent↗
PubMed2002

US experience in evaluation and diagnosis of GH therapy of intrauterine growth retardation/small-for-gestational-age children.

The potential role of exogenous GH in treating short children born small for gestational age (SGA) has been discussed since the early 1960s. Pivotal studies in Europe during the last 10 years have shown that GH treatment of short children born SGA during childhood and early puberty (1) normalizes stature, (2) increases final height above predicted height and (3) allows children to reach their target height. A study now under way in the USA will provide additional much needed data about efficacy and safety of GH treatment in intrauterine growth retardation/SGA.

Adult↗
PubMed2002

Pubertal gynecomastia.

Gynecomastia is a benign condition in males, characterized by proliferation of glandular elements resulting in concentric enlargement of one or both breasts. During puberty, there is often a transient relative imbalance between estrogen and testosterone, leading to gynecomastia. This condition usually resolves by age 18 years when adult androgen/estrogen ratios are achieved. Laboratory evaluation should include testosterone, estradiol, and gonadotropins; karyotype should be obtained in pubertal patients with testes volumes less than 6 ml. The mainstay in treatment of pubertal gynecomastia is still sympathetic reassurance considering the benign nature of the condition. Surgical removal of the breast glandular tissue should be considered in boys who have had persistent pubertal gynecomastia and have completed or nearly completed puberty.

Adolescent↗