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The role of the newborn screening programme (NSP) for the diagnosis of a 17-year-old boy with congenital Adrenal Hyperplasia (cah) due to 21 OH deficiency

Iva Stoeva, Antoaneta Kostova, Mariana Moskova, Albena Todorova, Tihomir Todorov, Andrey Kirov, Ani Aroyo

Abstract

A newborn boy was diagnosed with CAH via the 2010 implemented NSP in Bulgaria. The 17-OH-progesterone (17-OHP) from the 1st filter paper card (FPC) was 44.6 nmol/l, from the 2nd FPC 80 nmol/l. The examination on day 15th revealed as `only` sign slight hyperpigmentation of the scrotum. The screening suspicion `classical CAH` was confirmed by the increased serum levels of 17-OHP (normal electrolytes) and treatment with hydrocortisone was started. The MLPA analysis revealed a hemizygous del3-4, c.622T>A; p.I173N. Family history: 2nd son of relatively short parents - mother`s height - 152 cm (SDSh = -2.12), father`s height - 164 cm (SDSh= -1.96), MPH- 158 cm, SDS MPH= -2.54. The height of his older brother is 157 cm (SDSh= -3.01), while his target height of 164.5 cm (SDSh= -1.88) was markedly above the actual height. At 7 years he had initial pubarche and was the tallest boy in his class. He was taller than the average for his age until 12 years then he stopped growing. The older boy was also brought to a pediatric endocrinologist at 17 years of age. Elevated levels of 17-OHP in the serum >60 nmol/l (157.4) and on FPC:>285 nmol/l (537), together with the genetically verified CAH in the younger brother lead to the diagnosis `simple virilizing 21 OHD`, so treatment with hydrocortisone was started.

Conclusion: Some of the simple virilizing forms of CAH may remain unrecognized, esp. in `index-families`. The newly implemented CAH NSP represents a useful diagnostic tool also in such cases. Ultrasound of the adrenals and testes for testicular rest tumors is important initially and during follow up.


Keywords

simple virilizing 21 OHD - CAH; screening; late diagnosis in males

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References

Arlt W, DS Willis, SH Wild, N Krone, EJ Doherty, S Hahner et al. Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 Patients. J Clin Endocrinol Metab, 2010;95(11):5110-5121.

Armengaud JB, ML Charkaluk, C Trivin, V Tardy, G Breart, R Brauner et al. Precocious pubarche: distinguishing late-onset congenital adrenal hyperplasia from premature adrenarche. J Clin Endocrinol Metab, 2009;94(8):2835-2840.

Auchus RJ, W Arlt. Approach to the patient: the adult with congenital adrenal hyperplasia. J Clin Endocrinol Metab, 2013;98(7):2645-2655.

Bonfig W, HP Schwarz. Growth pattern of untreated boys with simple virilizing congenital adrenal hyperplasia indicates relative androgen insensitivity during the first six months of life. Horm Res Paediatr 2011;75(4):264-268.

Claahsen-van der Grinten HL, K Noordam, GF Borm, BJ Otten. Absence of increased height velocity in the first year of life in untreated children with simple virilizing congenital adrenal hyperplasia. J Clin Endocrinol Metab, 2006;91(4):1205-1209.

Forest MG. Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Reprod Update, 2004;10(6): 469-485.

Loechner KJ, JT McLaughlin, AS Calikoglu. Alternative strategies for the treatment of classical congenital adrenal hyperplasia: pitfalls and promis es. Int J Pediatr Endocrinol, 2010;2010:670960. doi: 10.1155/2010/670960. Epub 2010 Jun 24.

Martinez-Aguayo A, A Rocha, N Rojas, C García, R Parra, M Lagoset al. Testicular adrenal rest tumors and Leydig and Sertoli cell function in boys with classical congenital adrenal hyperplasia. J Clin Endocrinol Metab, 2007;92(12):4583-4589.

Merke DP, SR Barnstein. Congenital adrenal Hyperplasia. Lancet, 2005;365:2125-2136.

Merke DP. Approach to the adult with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab, 2008;93(3):653-660.

Nebesio TD, EA Eugster. Growth and Reproductive Outcomes in Congenital Adrenal Hyperplasia International. Int J Pediatr Endocrinol, 2010;2010:298937. doi: 10.1155/2010/298937. Epub 2010 Feb 1.

Nguyen AT, JJ Brown, GL Warne. Growth in Congenital Adrenal Hyperplasia. Indian J Pediatr, 2006;73(1):89-93.

Pijnenburg-Kleizen KJ, GF Borm, DA Otten, DA Schott, EL van der Akker, WH Stokvis-Branstma et al. Absence of clinically relevant growth acceleration in untreated children with non-classical congenital adrenal hyperplasia. Horm Res Paediatr, 2012;77(3):164-169.

Reisch N, L Flade, M Scherr, M Rottenkolber, GF Pedrosa, M Bidlingmaieret al. High prevalence of reduced fecundity in men with congenital adrenal hyperplasia. J Clin Endocrinol Metab, 2009;94(5):1665-1670.

Speiser, PW, R Azziz, LS Baskin, L Ghizzoni, TW Hensle, DP Merke et al. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab, 2010;95(9): 4133-4160.

Stoeva I, A Kostova, R Emilova. Congenital adrenal hyperplasia due to 21 hydroxylase deficiency. Part II: First results after introduction of the screening programme in Bulgaria. Pediatria, 2012;52(3):27-33 (in Bulgarian).

Thilén A, KAWoods, LA Perry, MO Savage, A Wedell, EM Ritzén. Early growth is not increased in untreated moderately severe 21-hydroxylase deficiency. Acta Paediatr, 1995;84(8):894-8.




DOI: http://dx.doi.org/10.14748/ssm.v46i4.1014

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About The Authors

Iva Stoeva
Medical University Sofia
Bulgaria

University Pediatric Hospital Sofia, Screening and Functional Endocrine Diagnostics

Antoaneta Kostova
Medical University Sofia
Bulgaria

University Pediatric Hospital Sofia, Screening and Functional Endocrine Diagnostics

Mariana Moskova
Medical University Sofia
Bulgaria

Regional Hospital Dobrich and Pediatric Center for Medico-social Care Dobrich

Albena Todorova
Medical University Sofia
Bulgaria

Department of Medical Chemistry and Biochemistry

Tihomir Todorov
Medical University Sofia
Bulgaria

Department of Medical Chemistry and Biochemistry

Andrey Kirov
Medical University Sofia
Bulgaria

Department of Medical Chemistry and Biochemistry

Ani Aroyo
Medical University Sofia
Bulgaria

University Pediatric Hospital Sofia, Screening and Functional Endocrine Diagnostics

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