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A Male Subject with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Which Was Diagnosed at 31 Years Old due to Infertility

Introduction: Congenital adrenal hyperplasia is caused by deficiencies in a number of enzymes involved in hormone biosynthesis in the adrenal glands or sexual glands. Adrenocorticotropic hormone (ACTH) secretion is enhanced by decreased cortisol production, leading to adrenal hyperplasia. The freque...

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Autores principales: Kaneto, Hideaki, Isobe, Hayato, Sanada, Junpei, Tatsumi, Fuminori, Kimura, Tomohiko, Shimoda, Masashi, Nakanishi, Shuhei, Kaku, Kohei, Mune, Tomoatsu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9914879/
https://www.ncbi.nlm.nih.gov/pubmed/36766610
http://dx.doi.org/10.3390/diagnostics13030505
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author Kaneto, Hideaki
Isobe, Hayato
Sanada, Junpei
Tatsumi, Fuminori
Kimura, Tomohiko
Shimoda, Masashi
Nakanishi, Shuhei
Kaku, Kohei
Mune, Tomoatsu
author_facet Kaneto, Hideaki
Isobe, Hayato
Sanada, Junpei
Tatsumi, Fuminori
Kimura, Tomohiko
Shimoda, Masashi
Nakanishi, Shuhei
Kaku, Kohei
Mune, Tomoatsu
author_sort Kaneto, Hideaki
collection PubMed
description Introduction: Congenital adrenal hyperplasia is caused by deficiencies in a number of enzymes involved in hormone biosynthesis in the adrenal glands or sexual glands. Adrenocorticotropic hormone (ACTH) secretion is enhanced by decreased cortisol production, leading to adrenal hyperplasia. The frequency of 21-hydroxylase deficiency (21-OHD) was the highest among congenital hyperplasias, and in 1989 it became one of the target diseases for newborn screening in Japan. Case presentation: A 31-year-old Japanese male visited our institution due to infertility. On admission, his height was 151.7 cm (average ± SD in the same age, sex and population: 172.1 ± 6.1 cm). It was noted that his height had not changed since he was ten years old, and that pubic hair was observed when he was 7 years old. He had azoospermia and his gonadotropin level was low. He had low levels of both luteinizing hormone (LH) and follicle-stimulating hormone (FSH) but high levels of free testosterone. He had a low cortisol level and high ACTH level. Abdominal computed tomography (CT) showed swelling of bilateral adrenal glands, although morphology was normal. Based on these findings, he was diagnosed with primary adrenal insufficiency and admitted to our institution. His height had not changed since he was ten years old. In addition, pubic hair was observed when he was 7 years old. His sexual desire was decreased, although he had no general malaise or fatigue. He did not have pigmentation of the skin, genital atrophy or defluxion of pubic hair, although his body hair was relatively thin. In endocrinology markers, ACTH level was high (172.2 pg/mL) (reference range: 7.2–63.3 pg/mL), although his cortisol level was 6.9 μg/dL (4.5–21.1 μg/dL). These data suggest that he suffered from primary adrenal insufficiency. LH and FSH levels were both low, but free testosterone and estradiol levels were high. These data excluded the possibility of central hypogonadism. Furthermore, the level of 17a-hydroxyprogesterone, a substrate of 21-hydroxylase, and the level of pregnanetriol, a metabolite of progesterone in urine, were both markedly high. Based on these findings, we ultimately diagnosed this patient with 21-hydroxylase deficiency. Conclusions: We experienced a case of congenital adrenal hyperplasia due to 21-hydroxylase deficiency which was diagnosed in a 31-year-old male with infertility. Therefore, the possibility of 21-hydroxylase deficiency should be borne in mind in subjects with infertility who were born before 1989 and who had not undergone newborn screening for this disease.
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spelling pubmed-99148792023-02-11 A Male Subject with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Which Was Diagnosed at 31 Years Old due to Infertility Kaneto, Hideaki Isobe, Hayato Sanada, Junpei Tatsumi, Fuminori Kimura, Tomohiko Shimoda, Masashi Nakanishi, Shuhei Kaku, Kohei Mune, Tomoatsu Diagnostics (Basel) Case Report Introduction: Congenital adrenal hyperplasia is caused by deficiencies in a number of enzymes involved in hormone biosynthesis in the adrenal glands or sexual glands. Adrenocorticotropic hormone (ACTH) secretion is enhanced by decreased cortisol production, leading to adrenal hyperplasia. The frequency of 21-hydroxylase deficiency (21-OHD) was the highest among congenital hyperplasias, and in 1989 it became one of the target diseases for newborn screening in Japan. Case presentation: A 31-year-old Japanese male visited our institution due to infertility. On admission, his height was 151.7 cm (average ± SD in the same age, sex and population: 172.1 ± 6.1 cm). It was noted that his height had not changed since he was ten years old, and that pubic hair was observed when he was 7 years old. He had azoospermia and his gonadotropin level was low. He had low levels of both luteinizing hormone (LH) and follicle-stimulating hormone (FSH) but high levels of free testosterone. He had a low cortisol level and high ACTH level. Abdominal computed tomography (CT) showed swelling of bilateral adrenal glands, although morphology was normal. Based on these findings, he was diagnosed with primary adrenal insufficiency and admitted to our institution. His height had not changed since he was ten years old. In addition, pubic hair was observed when he was 7 years old. His sexual desire was decreased, although he had no general malaise or fatigue. He did not have pigmentation of the skin, genital atrophy or defluxion of pubic hair, although his body hair was relatively thin. In endocrinology markers, ACTH level was high (172.2 pg/mL) (reference range: 7.2–63.3 pg/mL), although his cortisol level was 6.9 μg/dL (4.5–21.1 μg/dL). These data suggest that he suffered from primary adrenal insufficiency. LH and FSH levels were both low, but free testosterone and estradiol levels were high. These data excluded the possibility of central hypogonadism. Furthermore, the level of 17a-hydroxyprogesterone, a substrate of 21-hydroxylase, and the level of pregnanetriol, a metabolite of progesterone in urine, were both markedly high. Based on these findings, we ultimately diagnosed this patient with 21-hydroxylase deficiency. Conclusions: We experienced a case of congenital adrenal hyperplasia due to 21-hydroxylase deficiency which was diagnosed in a 31-year-old male with infertility. Therefore, the possibility of 21-hydroxylase deficiency should be borne in mind in subjects with infertility who were born before 1989 and who had not undergone newborn screening for this disease. MDPI 2023-01-30 /pmc/articles/PMC9914879/ /pubmed/36766610 http://dx.doi.org/10.3390/diagnostics13030505 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Kaneto, Hideaki
Isobe, Hayato
Sanada, Junpei
Tatsumi, Fuminori
Kimura, Tomohiko
Shimoda, Masashi
Nakanishi, Shuhei
Kaku, Kohei
Mune, Tomoatsu
A Male Subject with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Which Was Diagnosed at 31 Years Old due to Infertility
title A Male Subject with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Which Was Diagnosed at 31 Years Old due to Infertility
title_full A Male Subject with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Which Was Diagnosed at 31 Years Old due to Infertility
title_fullStr A Male Subject with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Which Was Diagnosed at 31 Years Old due to Infertility
title_full_unstemmed A Male Subject with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Which Was Diagnosed at 31 Years Old due to Infertility
title_short A Male Subject with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Which Was Diagnosed at 31 Years Old due to Infertility
title_sort male subject with congenital adrenal hyperplasia due to 21-hydroxylase deficiency which was diagnosed at 31 years old due to infertility
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9914879/
https://www.ncbi.nlm.nih.gov/pubmed/36766610
http://dx.doi.org/10.3390/diagnostics13030505
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