ESPE Abstracts (2019) 92 P3-27

A Boy with Adrenal Hypoplasia Congenita without External Genital Abnormalities

Ikumi Umeki1, Junko Kanno1, Hirohito Shima1,2, Dai Suzuki1, Miki Kamimura1, Keiko Homma3, Tomonobu Hasegawa4, Ikuma Fujiwara1,2, Shigeo Kure1


1Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan. 2Department of Pediatrics, Sendai City Hospital, Sendai, Japan. 3Department of Laboratory Medicine, Keio University School of Medicine, Tokyo, Japan. 4Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan


Background: Adrenal hypoplasia congenita (AHC) is a rare disorder with an estimated frequency of 1 case per 12,500 live births. AHC causes 46,XY disorders in sex development (DSD) due to adrenal androgen deficiency.

Objective: Case report ona male AHC patient with no external genitalia abnormalities.

Case report: The baby was born at 37 weeks'gestation with a height of 46.5 cm (-0.49SD), a weight of 2,175 g (-1.57SD), and a head circumference of 30.0 cm (-1.93SD). He had generalized pigmentation at birth. He was discharged without any problems five days after birth and only required daily light therapy. However, he was referred to a hospital at 11 days old due to poor feeding and poor weight gain. He was not thriving and had peripheral circulatory failure. Laboratory data showed low serum sodium (134 mEq/L) and high potassium (7.1 mEq/L) levels. He had suspected adrenal insufficiency and was transferred to our hospital for close investigation. He displayed pigmentation, particularly in the lips, areola, and vulva. His external genitalia were completely male, with no micropenis, hypospadias, or cryptorchidism. Ultrasound showed that his adrenal gland was smaller than normal size. Laboratory data showed normal cortisol levels (5.1 µg/dL) with high ACTH (1,078 pg/mL), high aldosterone (294.5 ng/dL), high renin (187.9 ng/mL/hr), low DHEA-S (4.1 µg/dL), and normal testosterone (55 ng/dL) levels. The ACTH test showed no response of cortisol (base 9.6 µg/dl, peak 8.2 µg/dl). We determined that his Δ5-steroids were decreased according to GC-MS measurements of urinary steroid hormones. He was diagnosed with AHC and began hydrocortisone and fludrocortisone. No NR0B1 mutations were detected by Sanger sequencing. An analysis of the causative gene is underway.

Discussion and conclusion: We consider that his fetal adrenal gland secreted sufficient androgen for external genital development; however, the development of his adult adrenal gland was impaired. When encountering a patient with pigmentation, we should consider AHC even if no external genital abnormalities are present.

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