The Clinical Characteristics of Congenital Adrenal Hyperplasia

INTRODUCTION: Testicular adrenal rest tumors (TARTs) are the main etiology of infertility in congenital adrenal hyperplasia (CAH). The aim of this study is to determine the patients diagnosed with TART and to evaluate the risk factors associated with the development of the disease. METHODS: Clinical characteristics of 31 patients with CAH including 19 male, and 12 female patients who were followed up in our clinic were retrospectively reviewed regarding the presence of TART. Differences between clinical and laboratory findings of patients with and without TART were examined. Six male patients with TART were included in the study. Clinical characteristics such as pubertal stage, treatment doses, laboratory findings were evaluated. Changes in size of TARTs were examined with ultrasound follow-ups at six month- intervals. RESULTS: The prevalence of TARTs was 31.5 % (6/19 male). Precocious puberty was higher in patients with TART than without TART. The mean age of the patients was 9.1±2.4 (range: 5.2-12.4) years at the time of diagnosis with TART. Five patients with TART were inadequately controlled. Four patients had a history of precocious puberty. Tumor progression was detected in 4 of 6 patients. In three patients with tumor progression, serum 17-hydroxy progesterone (17-OHP) values increased during follow-up, probably due to non-compliance with treatment. DISCUSSION AND CONCLUSION: Scrotal ultrasound monitoring should be performed in all male patients with CAH in early childhood irrespective of disease control.

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The classical form of congenital adrenal hyperplasia-clinical characteristics and genetic analysis

Endocrine Abstracts ◽

10.1530/endoabs.41.ep39 ◽

2016 ◽

Author(s):

Elwira Przybylik-Mazurek ◽

Anna Kurzynska ◽

Anna Skalniak ◽

Jakub Piatkowski ◽

Alicja Hubalewska-Dydejczyk

Keyword(s):

Genetic Analysis ◽

Congenital Adrenal Hyperplasia ◽

Clinical Characteristics ◽

Adrenal Hyperplasia ◽

Classical Form

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Clinical Characteristics of 46,XX Males with Congenital Adrenal Hyperplasia

Journal of Clinical Research in Pediatric Endocrinology ◽

10.4274/jcrpe.galenos.2020.2020.0216 ◽

2020 ◽

Vol 0 (0) ◽

pp. 0-0

Author(s):

Şenay Savaş-Erdeve ◽

Zehra Aycan ◽

Semra Çetinkaya ◽

Ayşe Pınar Ozturk ◽

Firdevs Bas ◽

...

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Clinical Characteristics ◽

Adrenal Hyperplasia ◽

Xx Males

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A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2018-0342 ◽

2019 ◽

Vol 32 (3) ◽

pp. 253-258 ◽

Cited By ~ 2

Author(s):

Li-fei Gong ◽

Xiao Gao ◽

Nan Yang ◽

Jin-qi Zhao ◽

Hai-he Yang ◽

...

Keyword(s):

Pilot Study ◽

Congenital Adrenal Hyperplasia ◽

Newborn Screening ◽

Clinical Characteristics ◽

Skin Pigmentation ◽

Clinical Signs ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

Feeding Difficulties ◽

21 Hydroxylase Deficiency

Abstract Background A provisionary screening programme for 21-hydroxylase deficiency (21-OHD) was initiated in Beijing in 2014. The aim of this study was to investigate the incidence and the associated clinical characteristics of neonatal congenital adrenal hyperplasia (CAH) in Beijing and to provide evidence-based guidance for its application in CAH screening. Methods Live birth newborns (n=44,360) were screened for CAH in Beijing from July 2014 to April 2018. The levels of 17-hydroxyprogesterone (17-OHP) in the blood were estimated using the time-resolved fluoroimmunoassay. Neonates with a positive result and a level >30 nmol/L of 17-OHP were called for a retest. CAH was diagnosed based on further laboratory findings combined with clinical signs, such as weight loss, feeding difficulties, skin pigmentation, and atypical genitalia. Through a review of medical records, the clinical findings including molecular data were reported. Results Of the 44,360 neonates screened, 280 cases were deemed positive. Of these, 203 neonates were recalled for further tests and six patients (three boys and three girls) were diagnosed with CAH. Five cases of classic salt-wasting and one case of simple virilising 21-OHD were identified. The incidence of CAH in Beijing was 1:7393. The most frequent 21-OHD mutation was c.293-13C/A>G. Conclusions The incidence of CAH in Beijing was higher than the national average. The results support the need for neonatal CAH screening in Beijing. This pilot study demonstrates the clinical characteristics of 21-OHD through newborn screening. Early detection and treatment through neonatal screening may reduce mortality rates and optimise developmental outcomes.

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