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Naomi Weintrob, Zvi Dickerman, Elliot Sprecher, Avinoam Galatzer, and Atalia Pertzelan

Abstract

Objective: To review the characteristics of children with non-classical 21-hydroxylase deficiency (NC-21-OHD) diagnosed during infancy and childhood, and to evaluate the relationship of pubertal and bone age maturation at initiation of glucocorticoid therapy with the course of puberty and final height.

Design: We retrospectively compared the course of puberty, growth pattern and final height in two groups of patients: group A (two males, six females), hydrocortisone (HC) treatment 7·5–15 mg/m2 per 24 h, initiated ≥1 year before onset of true puberty and group B (seven females), treatment started with the first signs of true puberty present.

Participants: Thirteen girls and two boys with NC-21-OHD diagnosed at age range 0·5–10·6 years were followed-up for 9·0 ± 3·8 years (mean±s.d.). Therapy with HC was initiated because of signs of hyperandrogenism, accelerated growth and bone maturation, or true precocious puberty. The HC dose was adjusted according to linear growth and basal plasma androgen levels.

Results: Puberty and peak height velocity developed significantly earlier in the girls of group B: gonadarche at 7·9 ± 1·4 years and peak height velocity at 9·2 ± 1·4 years vs 10·2 ± 0·4 years (P = 0·002) and 11·5 ± 0·7 years (P = 0·006) in group A. Menarche, however, occurred only slightly earlier in group B (12·0 ± 1·1 vs 12·8 ±0·5 years, P = 0·068). All eight children in group A achieved a final height within the range of their mean parental height standard deviation scores (SDS) in comparison with only 1/7 in group B (P = 0·0014). Seven of eight patients who started therapy before a bone age of 9 years achieved a final height within the parental height SDS range, compared with 2/7 who started therapy later (P = 0·041). The final height SDS was significantly better for group A (0·05 ± 0·19, mean ± s.e.m.) than group B (−1·63 ± 0·23, P = 0·0007), even when adjusted for a significant effect of the mean parental height SDS (A, −0·63 ± 0·28; B, −0·89 ± 0·31, P = 0·0245, ANCOVA).

Conclusion: Every child with signs of excess androgen activity or early puberty should be studied for the possibility of NC-21-OHD. Screening programs for populations with a high frequency of the gene for NC-21-OHD would facilitate early diagnosis and treatment. Pubertal stage and bone age at the introduction of therapy dictate height prognosis. Initiation of therapy before puberty with careful follow-up and HC dose adjustment can assure the achievement of genetic adult height.

European Journal of Endocrinology 136 188–195

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Angela K Lucas-Herald, Jillian Bryce, Andreas Kyriakou, Marie Lindhardt Ljubicic, Wiebke Arlt, Laura Audí, Antonio Balsamo, Federico Baronio, Silvano Bertelloni, Markus Bettendorf, Antonia Brooke, Hedi L Claahsen-van der Grinten, Justin Davies, Gloria Hermann, Liat de Vries, Ieuan A Hughes, Rieko Tadokoro-Cuccaro, Feyza Darendeliler, Sukran Poyrazoglu, Mona Ellaithi, Olcay Evliyaoglu, Simona Fica, Lavinia Stejereanu, Aneta Gawlik, Evgenia Globa, Nataliya Zelinska, Tulay Guran, Ayla Güven, Sabine Hannema, Olaf Hiort, P-m Holterhus, Violeta Iotova, Vilhelm Mladenov, Vandana Jain, Rajni Sharma, Farida Jennane, Colin Johnston, Gil Guerra-Junior, Daniel Konrad, Odile Gaisl, Nils P Krone, Ruth Krone, Katherine Lachlan, Dejun Li, Corina Lichiardopol, Lidka Lisá, Renata Levoni Markosyan, Inas Mazen, Klaus Mohnike, Marek Niedziela, Anna Nordenstrom, Rodolfo A Rey, Mars Skae, Lloyd JW Tack, Jeremy W Tomlinson, Naomi Weintrob, Martine Cools, and S Faisal Ahmed

Objectives: To determine trends in clinical practice for individuals with DSD requiring gonadectomy.

Design: Retrospective cohort study.

Methods: Information regarding age at gonadectomy according to diagnosis; reported sex; time of presentation to specialist center; and location of center from cases reported to the International DSD Registry and who were over 16 years old in January 2019.

Results: Data regarding gonadectomy were available in 668 (88%) individuals from 44 centers. Of these, 248 (37%) (median age (range) 24 (17, 75) years) were male and 420 (63%) (median age (range) 26 (16, 86) years) were female. Gonadectomy was reported from 36 centers in 351/668 cases (53%). Females were more likely to undergo gonadectomy (n=311, p<0.0001). The indication for gonadectomy was reported in 268 (76%). The most common indication was mitigation of tumour risk in 172 (64%). Variations in the practice of gonadectomy were observed; of the 351 cases from 36 centers, 17 (5%) at 9 centers had undergone gonadectomy before their first presentation to the specialist center. Median age at gonadectomy of cases from high income countries and low/middle income countries (LMIC) was 13.0 yrs (0.1, 68) years and 16.5 yrs (1, 28), respectively (p<0.0001) with the likelihood of long-term retention of gonads being higher in LMIC countries.

Conclusions: The likelihood of gonadectomy depends on the underlying diagnosis, sex of rearing and the geographical setting. Clinical benchmarks, which can be studied across all forms of DSD will allow a better understanding of the variation in the practice of gonadectomy.