Multicenter observational studies for lipoid congenital adrenal hyperplasia in Japan

Establishment of a patient registry system and multicenter observational studies for lipoid congenital adrenal hyperplasia in Japan - LCAH-J

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

JPRN

Registry ID

JPRN-UMIN000050445

Enrollment

Registered

2023-04-01

Start date

2024-04-01

Completion date

Unknown

Last updated

2026-06-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Lipoid congenital adrenal hyperplasia

Interventions

None listed

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: This study enrolls patients with lipoid congenital adrenal hyperplasia who met the following criteria as "definite" or "probable" and provide the informed consent. Criteria for lipoid congenital adrenal hyperplasia Definite: I + II + III + V or I + II + IV + V Probable: I + II + V I. Clinical manifestation 1) Signs related to adrenal insufficiency: poor appetite, failure to thrive, nausea/vomit, dehydration, impaired consciousness, or shock. 2) Hyperpigmentation: generalized skin, gingiva, lips, areola, umbilicus, or genitalia. 3) Undermasculinization of the external genitalia in 46,XY cases: Mostly severe as female-type external genitalia, rarely mild as hypospadias or micropenis. 4) Hypergonadotropic hypogonadism: delayed puberty, stunted pubertal progression, secondary menarche. II. Laboratory data 1) Deficiency of adrenocortical steroid hormones (1) Low serum cortisol level (2) Low serum or plasma aldosterone level (3) Low serum adrenal androgen level (4) Low urinary metabolites of adrenocortical steroid hormones, especially those derived from fetal cortex 2) High plasma ACTH level 3) High plasma renin level 4) Low serum sodium, high serum potassium, or low plasma glucose level 5) High serum LH and FSH levels III. Imaging study (abdominal CT) Adrenal swelling with fat density IV. Genetic analysis Pathogenic STAR variants V. Exclusion Congenital adrenal hypolpasia, ACTH unresponsiveness, 21-hydroxylase deficiency, 3beta-hydoroxysteroid dehydrogenase deficiency

Exclusion criteria

Exclusion criteria: The study dose not enroll patients who have other disorders causing obesity, hypertension, impaired glucose tolerance, diabetes mellitus, osteoporosis, or hypogonadism or those whom their physicians or principal investigator decide inappropriate for this study.

Design outcomes

Primary

Measure	Time frame
Using all cases that meet the registration criteria, we will examine the prevalence of primary adrenal insufficiency and its treatment-related complications, the prevalence of primary ovarian insufficiency and ovarian morphological abnormalities, and the prevalence of primary testicular insufficiency. 1. Primary adrenal insufficiency: Glucocorticoid secretion deficiency, Mineralocorticoid secretion deficiency 2. Treatment-related complications of primary adrenal insufficiency: Obesity, Hypertension, Impaired glucose tolerance, Diabetes mellitus, Osteoporosis 3. Primary ovarian insufficiency and ovarian morphological abnormalities: Premature ovarian failure, Ovarian cysts, Ovarian enlargement 4. Primary testicular insufficiency: Male hormone secretion deficiency, Impaired spermatogenesis	—

Measure

Time frame

Using all cases that meet the registration criteria, we will examine the prevalence of primary adrenal insufficiency and its treatment-related complications, the prevalence of primary ovarian insufficiency and ovarian morphological abnormalities, and the prevalence of primary testicular insufficiency. 1. Primary adrenal insufficiency: Glucocorticoid secretion deficiency, Mineralocorticoid secretion deficiency 2. Treatment-related complications of primary adrenal insufficiency: Obesity, Hypertension, Impaired glucose tolerance, Diabetes mellitus, Osteoporosis 3. Primary ovarian insufficiency and ovarian morphological abnormalities: Premature ovarian failure, Ovarian cysts, Ovarian enlargement 4. Primary testicular insufficiency: Male hormone secretion deficiency, Impaired spermatogenesis

—

Secondary

Measure	Time frame
Health-related quality of life (QOL) : Scores of SF36 health survey v2 (Japanese version)	—

Countries

Japan,Asia(except Japan)

Contacts

Public ContactTomohiro Ishii

Tokyo Metropolitan Children's Medical Center Department of Endocrinology and Metabolism

tomishii@keio.jp042-300-5111

Outcome results