Therapeutic Challenge of Preserving Adult Height in a Patient with Langer Mesomelic Dysplasia and Non-Classic Congenital Adrenal Hyperplasia: A Case Report

BACKGROUND: Non-classic congenital adrenal hyperplasia (NCAH) is a relatively common disorder, but very often, it remains undiagnosed. Clinical appearance of NCAH can be asymptomatic at birth. Symptoms are presented more often in late childhood, adolescence, or later in life caused by excessive androgen secretion. CASE REPORT: We report the case of 27-year-old girl with 2 years history of high-grade of hirsutism, hair loss on the front of scalp with female pattern hair loss, (grade II according to Ludwig scale), breast volume reduction, weight loss (15 kg), depression, but without menstrual disorders, normal blood pressure, and usage of oral contraceptives for more than 1 year without any improvement. We did blood tests for hormonal protocol for hyperandrogenemia and we found these values high 17 (OH) progesterone and all other androgen hormones. After these examinations, the patient was diagnosed with a non-classic form of CAH. CONCLUSION: Treatment with corticosteroids and other necessary treatment improved clinical and hormonal features.

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Characteristics of growth in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency during adrenarche and beyond

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/clinem/dgab701 ◽

2021 ◽

Author(s):

Tobias Troger ◽

Grit Sommer ◽

Mariarosaria Lang-Muritano ◽

Daniel Konrad ◽

Beatrice Kuhlmann ◽

...

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Adult Height ◽

Final Height ◽

Bone Age ◽

Growth Patterns ◽

Adrenal Hyperplasia ◽

Classic Congenital Adrenal Hyperplasia ◽

Classic Cah ◽

21 Hydroxylase Deficiency ◽

The Impact

Abstract Context Patients with classic congenital adrenal hyperplasia (CAH) often fail to achieve their full growth potential. Adrenarche may accelerate bone maturation and thereby result in decreased growth in CAH. Objective To analyze the impact of growth during adrenarche on final height of adequately treated classic CAH patients. Design Retrospective, multi-center study. Setting Four academic pediatric endocrinology centers. Participants Fourty-one patients with classical CAH, born between 1990 and 2012. Main outcome measures We assessed skeletal maturation (bone age), growth velocity and (projected) adult height outcomes, and analyzed potential influencing factors, such as sex, genotype, and glucocorticoid therapy. Results Patients with classic CAH were shorter than peers (-0.4SDS±0.8SD) and their parents (corrected final height -0.6SDS±1.0SD). Analysis of growth during adrenarche revealed two different growth patterns: patients with accelerating bone age (49%), and patients with non-accelerating bone age compared to chronological age (BA-CA). Patients with accelerating BA-CA were taller than the normal population during adrenarche years (p=0.001) and were predicted to achieve a lower adult height SDS (-0.9SDS, 95%CI -1.3;-0.5) than non-accelerating patients when assessed during adrenarche (0.2SDS, 95%CI -0.3;0.8). Final adult height was similarly reduced in both accelerating and non-accelerating BA-CA groups (-0.4SDS, 95%CI -0.9;0.1 vs -0.3SDS, 95%CI -0.8;0.1). Conclusions Patients with and without significant bone age advancement, and thus differing height prediction during adrenarche, showed similar (predicted) final height when reassessed during pubertal years. Bone age alone should not be used during adrenarche as clinical marker for metabolic control in CAH treatment.

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